MAF c.864G>C ;(p.R288=)

Variant ID: 16-79632936-C-G

NM_005360.4(MAF):c.864G>C;(p.R288=)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Mutation update of transcription factor genes FOXE3, HSF4, MAF, and PITX3 causing cataracts and other developmental ocular defects.

Human Mutation
Anand, Deepti D; Agrawal, Smriti A SA; Slavotinek, Anne A; Lachke, Salil A SA
Publication Date: 2018-04

Variant appearance in text: c-MAF: 864G>C
PubMed Link: 29314435
Variant Present in the following documents:
  • Main text
View BVdb publication page