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CREBBP c.5077G>A ;(p.V1693M)
Variant ID: 16-3781288-C-T
NM_004380.2(
CREBBP
):c.5077G>A;(p.V1693M)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Genetic profiles of subcutaneous panniculitis-like T-cell lymphoma and clinicopathological impact of HAVCR2 mutations.
Blood Advances
Koh, Jiwon J; Jang, Insoon I; Mun, Seungchan S; Lee, Cheol C; Cha, Hee Jeong HJ; Oh, Young Ha YH; Kim, Jin-Man JM; Han, Jae Ho JH; Paik, Jin Ho JH; Cho, Junhun J; Ko, Young Hyeh YH; Park, Chan-Sik CS; Go, Heounjeong H; Huh, Jooryung J; Kim, Kwangsoo K; Jeon, Yoon Kyung YK
Publication Date: 2021-10-26
Variant appearance in text: CREBBP: 5077G>A; Val1693Met
PubMed Link:
34535012
Variant Present in the following documents:
advancesADV2021004562-suppl2.xlsx, sheet 9
View BVdb publication page
De novo mutations in folate-related genes associated with common developmental disorders.
Computational And Structural Biotechnology Journal
Luo, Tengfei T; Li, Kuokuo K; Ling, Zhengbao Z; Zhao, Guihu G; Li, Bin B; Wang, Zheng Z; Wang, Xiaomeng X; Han, Ying Y; Xia, Lu L; Zhang, Yi Y; Zhou, Qiao Q; Fang, Zhenghuan Z; Wang, Yijing Y; Chen, Qian Q; Zhou, Xun X; Pan, Hongxu H; Zhao, Yuwen Y; Wang, Yige Y; Dong, Lijie L; Huang, Yuanfeng Y; Hu, Zhengmao Z; Pan, Qian Q; Xia, Kun K; Li, Jinchen J
Publication Date: 2021
Variant appearance in text: CREBBP: 5077G>A; V1693M
PubMed Link:
33777337
Variant Present in the following documents:
mmc6.xlsx, sheet 1
View BVdb publication page