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NUP62CL c.530T>G ;(p.I177S)
Variant ID: X-106396402-A-C
NM_017681.2(
NUP62CL
):c.530T>G;(p.I177S)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.
Plos One
Talukder, Asoke K AK; Ravishankar, Shashidhar S; Sasmal, Krittika K; Gandham, Santhosh S; Prabhukumar, Jyothsna J; Achutharao, Prahalad H PH; Barh, Debmalya D; Blasi, Francesco F
Publication Date: 2015
Variant appearance in text: rs1298577
PubMed Link:
25905921
Variant Present in the following documents:
pone.0123569.s008.xls, sheet 5
pone.0123569.s008.xls, sheet 4
pone.0123569.s008.xls, sheet 2
pone.0123569.s008.xls, sheet 11
pone.0123569.s008.xls, sheet 6
View BVdb publication page
Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.
Bmc Genomics
Ilyas, Muhammad M; Kim, Jong-Soo JS; Cooper, Jesse J; Shin, Young-Ah YA; Kim, Hak-Min HM; Cho, Yun Sung YS; Hwang, Seungwoo S; Kim, Hyunho H; Moon, Jaewoo J; Chung, Oksung O; Jun, JeHoon J; Rastogi, Achal A; Song, Sanghoon S; Ko, Junsu J; Manica, Andrea A; Rahman, Ziaur Z; Husnain, Tayyab T; Bhak, Jong J
Publication Date: 2015-03-12
Variant appearance in text: rs1298577
PubMed Link:
25887915
Variant Present in the following documents:
12864_2015_1290_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Bmc Genomics
Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z
Publication Date: 2013
Variant appearance in text: rs1298577
PubMed Link:
23819521
Variant Present in the following documents:
1471-2164-14-S3-S7-S1.xlsx, sheet 2
View BVdb publication page