Varaico: Literature-Extracted Genetic Variants

Gene:EHF
Variant:p.T25T

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.T25T
c.75A>T
Surrounding Variants
1 paper
NM_012153.6
p.C31insFs
c.91_92insT
1 paper
NM_012153.6
p.H19D
c.55C>G
1 paper
NM_012153.6
p.N16N
c.48C>T
1 paper
NM_012153.6
p.V8I
c.22G>A
1 paper
NM_012153.6
p.G7D
c.20G>A
1 paper
NM_012153.6
p.G6V
c.17G>T
1 paper
NM_012153.6
p.M1I
c.3G>A
1 paper
NM_012153.6
p.M1_I2delFs
c.1_4del4
1 paper
NM_012153.6
p.M1_E4del4
c.1_11del12
1 paper
NM_012153.6
p.G36_F37insFs
c.107_110dup4
1 paper
NM_012153.6
p.F37ins3
c.109_110ins9
1 paper
NM_012153.6
p.G40D
c.119G>A
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