MYH3 c.1123G>A ;(p.E375K)

Variant ID: 17-10549042-C-T

NM_002470.3(MYH3):c.1123G>A;(p.E375K)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


A bipartite graph-based expected networks approach identifies DDR genes not associated with TMB yet predictive of immune checkpoint blockade response.

Cell Reports. Medicine
Weir, William H WH; Mucha, Peter J PJ; Kim, William Y WY
Publication Date: 2022-05-17

Variant appearance in text: MYH3: 1123G>A; Glu375Lys
PubMed Link: 35584624
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page



Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders.

Npj Genomic Medicine
Zhao, Sen S; Zhang, Yuanqiang Y; Hallgrimsdottir, Sigrun S; Zuo, Yuzhi Y; Li, Xiaoxin X; Batkovskyte, Dominyka D; Liu, Sen S; Lindelöf, Hillevi H; Wang, Shengru S; Hammarsjö, Anna A; Yang, Yang Y; Ye, Yongyu Y; Wang, Lianlei L; Yan, Zihui Z; Lin, Jiachen J; Yu, Chenxi C; Chen, Zefu Z; Niu, Yuchen Y; Wang, Huizi H; Zhao, Zhi Z; Liu, Pengfei P; Qiu, Guixing G; Posey, Jennifer E JE; Wu, Zhihong Z; Lupski, James R JR; Micule, Ieva I; Anderlid, Britt-Marie BM; Voss, Ulrika U; Sulander, Dennis D; Kuchinskaya, Ekaterina E; Nordgren, Ann A; Nilsson, Ola O; , ; Zhang, Terry Jianguo TJ; Grigelioniene, Giedre G; Wu, Nan N
Publication Date: 2022-02-15

Variant appearance in text: MYH3: 1123G>A; Glu375Lys
PubMed Link: 35169139
Variant Present in the following documents:
  • 41525_2021_273_MOESM2_ESM.pdf
View BVdb publication page



Identification of Immune-Related Gene Signatures in Lung Adenocarcinoma and Lung Squamous Cell Carcinoma.

Frontiers In Immunology
Li, Na N; Wang, Jiahong J; Zhan, Xianquan X
Publication Date: 2021

Variant appearance in text: MYH3: 1123G>A; E375K
PubMed Link: 34887858
Variant Present in the following documents:
  • Table_3.xlsx, sheet 1
View BVdb publication page



Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: MYH3: 1123G>A; E375K
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9
View BVdb publication page



Aggressive natural killer-cell leukemia mutational landscape and drug profiling highlight JAK-STAT signaling as therapeutic target.

Nature Communications
Dufva, Olli O; Kankainen, Matti M; Kelkka, Tiina T; Sekiguchi, Nodoka N; Awad, Shady Adnan SA; Eldfors, Samuli S; Yadav, Bhagwan B; Kuusanmäki, Heikki H; Malani, Disha D; Andersson, Emma I EI; Pietarinen, Paavo P; Saikko, Leena L; Kovanen, Panu E PE; Ojala, Teija T; Lee, Dean A DA; Loughran, Thomas P TP; Nakazawa, Hideyuki H; Suzumiya, Junji J; Suzuki, Ritsuro R; Ko, Young Hyeh YH; Kim, Won Seog WS; Chuang, Shih-Sung SS; Aittokallio, Tero T; Chan, Wing C WC; Ohshima, Koichi K; Ishida, Fumihiro F; Mustjoki, Satu S
Publication Date: 2018-04-19

Variant appearance in text: MYH3: E375K; rs121913621
PubMed Link: 29674644
Variant Present in the following documents:
  • 41467_2018_3987_MOESM6_ESM.xlsx, sheet 4
View BVdb publication page



Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth.

Orphanet Journal Of Rare Diseases
Todd, Emily J EJ; Yau, Kyle S KS; Ong, Royston R; Slee, Jennie J; McGillivray, George G; Barnett, Christopher P CP; Haliloglu, Goknur G; Talim, Beril B; Akcoren, Zuhal Z; Kariminejad, Ariana A; Cairns, Anita A; Clarke, Nigel F NF; Freckmann, Mary-Louise ML; Romero, Norma B NB; Williams, Denise D; Sewry, Caroline A CA; Colley, Alison A; Ryan, Monique M MM; Kiraly-Borri, Cathy C; Sivadorai, Padma P; Allcock, Richard J N RJ; Beeson, David D; Maxwell, Susan S; Davis, Mark R MR; Laing, Nigel G NG; Ravenscroft, Gianina G
Publication Date: 2015-11-17

Variant appearance in text: MYH3: 1123G>A; Glu375Lys
PubMed Link: 26578207
Variant Present in the following documents:
  • Main text
  • 13023_2015_Article_364.pdf
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: MYH3: E375K
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 3
View BVdb publication page



Spectrum of mutations that cause distal arthrogryposis types 1 and 2B.

American Journal Of Medical Genetics. Part A
Beck, Anita E AE; McMillin, Margaret J MJ; Gildersleeve, Heidi I S HI; Kezele, Phillip R PR; Shively, Kathryn M KM; Carey, John C JC; Regnier, Michael M; Bamshad, Michael J MJ
Publication Date: 2013-03

Variant appearance in text: MYH3: 1123G>A; E375K
PubMed Link: 23401156
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sheldon-Hall syndrome.

Orphanet Journal Of Rare Diseases
Toydemir, Reha M RM; Bamshad, Michael J MJ
Publication Date: 2009-03-23

Variant appearance in text: MYH3: E375K
PubMed Link: 19309503
Variant Present in the following documents:
  • Main text
  • 1750-1172-4-11.pdf
View BVdb publication page