Varaico: Literature-Extracted Genetic Variants

Gene:EHF
Variant:p.R95Q

EHF

68 papers

RefSeq Summary

This gene encodes a protein that belongs to an ETS transcription factor subfamily characterized by epithelial-specific expression (ESEs). The encoded protein acts as a transcriptional repressor and ma...

Pfam Domains

SAM_PNTaa 31–115UCSCSterile alpha motif (SAM)/Pointed domain
Etsaa 206–289UCSCEts-domain
Etsaa 206–289UCSCEts-domain

Gene Aliases

HGNC Name

ETS homologous factor

HGNC Alias Symbols

ESE3; ESEJ

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_012153.6
p.R95Q
c.284G>A
Surrounding Variants
3 papers
NM_012153.6
p.A96V
c.287C>T
1 paper
NM_012153.6
p.T99S
c.295A>T
1 paper
NM_012153.6
p.Q91L
c.272A>T
1 paper
NM_012153.6
p.G101E
c.302G>A
1 paper
NM_012153.6
p.S87S
c.261C>T
1 paper
NM_012153.6
p.L85L
c.255C>T
1 paper
NM_012153.6
p.Y105_H110delFs
c.315_330del16
1 paper
NM_012153.6
p.S106N
c.317G>A
1 paper
NM_012153.6
p.H84Y
c.250C>T
1 paper
NM_012153.6
p.Q109_H110ins9
c.325_329ins27
1 paper
NM_012153.6
p.Q76H
c.228A>C
1 paper
NM_012153.6
p.Q76H
c.228A>T
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