NASP c.31G>C ;(p.V11L)

Variant ID: 1-46049849-G-C

NM_002482.3(NASP):c.31G>C;(p.V11L)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Male pseudohermaphroditism: A case study of 46,XY disorder of sexual development using whole-exome sequencing.

Clinical Case Reports
Naumova, Oxana Yu OY; Rychkov, Sergey Yu SY; Burenkova, Olga V OV; Solodunova, Maria Yu MY; Polyanskaya, Irina V IV; Arintcina, Irina A IA; Zhukova, Marina A MA; Ovchinnikova, Irina V IV; Zhukova, Olga V OV; Grigorenko, Elena L EL
Publication Date: 2020-12

Variant appearance in text: rs28365868
PubMed Link: 33363845
Variant Present in the following documents:
  • Main text
  • CCR3-8-2889.pdf
View BVdb publication page



Dysregulation of neuron differentiation in an autistic savant with exceptional memory.

Molecular Brain
Song, Jinjing J; Yang, Xiujuan X; Zhou, Ying Y; Chen, Lei L; Zhang, Xu X; Liu, Zhuxi Z; Niu, Weibo W; Zhan, Nengpeng N; Fan, Xuelian X; Khan, Abdul Aziz AA; Kuang, Yifang Y; Song, Lulu L; He, Guang G; Li, Weidong W
Publication Date: 2019-11-07

Variant appearance in text: NASP: V11L; rs28365868
PubMed Link: 31699123
Variant Present in the following documents:
  • 13041_2019_507_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



DNA methylation loss promotes immune evasion of tumours with high mutation and copy number load.

Nature Communications
Jung, Hyunchul H; Kim, Hong Sook HS; Kim, Jeong Yeon JY; Sun, Jong-Mu JM; Ahn, Jin Seok JS; Ahn, Myung-Ju MJ; Park, Keunchil K; Esteller, Manel M; Lee, Se-Hoon SH; Choi, Jung Kyoon JK
Publication Date: 2019-09-19

Variant appearance in text: NASP: V11L
PubMed Link: 31537801
Variant Present in the following documents:
  • 41467_2019_12159_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine
Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A
Publication Date: 2019-06-28

Variant appearance in text: NASP: V11L
PubMed Link: 31253177
Variant Present in the following documents:
  • 13073_2019_654_MOESM2_ESM.xlsx, sheet 52
  • 13073_2019_654_MOESM2_ESM.xlsx, sheet 51
View BVdb publication page



Exome sequencing of serous endometrial tumors identifies recurrent somatic mutations in chromatin-remodeling and ubiquitin ligase complex genes.

Nature Genetics
Le Gallo, Matthieu M; O'Hara, Andrea J AJ; Rudd, Meghan L ML; Urick, Mary Ellen ME; Hansen, Nancy F NF; O'Neil, Nigel J NJ; Price, Jessica C JC; Zhang, Suiyuan S; England, Bryant M BM; Godwin, Andrew K AK; Sgroi, Dennis C DC; , ; Hieter, Philip P; Mullikin, James C JC; Merino, Maria J MJ; Bell, Daphne W DW
Publication Date: 2012-12

Variant appearance in text: NASP: V11L
PubMed Link: 23104009
Variant Present in the following documents:
  • NIHMS412622-supplement-7.xls, sheet 1
View BVdb publication page