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SHROOM3 c.4726A>G ;(p.K1576E)
Variant ID: 4-77677618-A-G
NM_020859.3(
SHROOM3
):c.4726A>G;(p.K1576E)
This variant was identified in 5 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Family-based exome sequencing identifies candidate genes related to keratoconus in Chinese families.
Frontiers In Genetics
Xu, Liyan L; Yang, Kaili K; Yin, Shanshan S; Gu, Yuwei Y; Fan, Qi Q; Wang, Yawen Y; Zhao, Dongqing D; Ren, Shengwei S
Publication Date: 2022
Variant appearance in text: SHROOM3: K1576E
PubMed Link:
36118869
Variant Present in the following documents:
Main text
fgene-13-988620.pdf
View BVdb publication page
Author Correction: Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.
Nature Communications
Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R
Publication Date: 2022-05-10
Variant appearance in text: SHROOM3: K1576E
PubMed Link:
35538087
Variant Present in the following documents:
41467_2022_30446_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page
Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.
Nature Communications
Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R
Publication Date: 2022-02-23
Variant appearance in text: SHROOM3: K1576E
PubMed Link:
35197475
Variant Present in the following documents:
41467_2022_28566_MOESM5_ESM.xlsx, sheet 2
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: SHROOM3: K1576E; rs139635179
PubMed Link:
31699123
Variant Present in the following documents:
13041_2019_507_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page
A novel ZIC3 gene mutation identified in patients with heterotaxy and congenital heart disease.
Scientific Reports
Li, Shuolin S; Liu, Sida S; Chen, Weicheng W; Yuan, Yuan Y; Gu, Ruoyi R; Song, Yangliu Y; Li, Jian J; Cao, Yinyin Y; Lin, Yixiang Y; Xu, Jun J; Wang, Huijun H; Ma, Duan D; Ma, Xiaojing X; Sheng, Wei W; Huang, Guoying G
Publication Date: 2018-08-17
Variant appearance in text: SHROOM3: 4726A>G; Lys1576Glu
PubMed Link:
30120289
Variant Present in the following documents:
Main text
41598_2018_Article_30204.pdf
View BVdb publication page