Varaico: Literature-Extracted Genetic Variants

Gene:EHF
Variant:p.H46D

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.H46D
c.136C>G
Surrounding Variants
1 paper
NM_012153.6
p.G40D
c.119G>A
1 paper
NM_012153.6
p.F37ins3
c.109_110ins9
1 paper
NM_012153.6
p.G36_F37insFs
c.107_110dup4
1 paper
NM_001206616.2
p.L84F
c.250C>T
1 paper
NM_012153.6
p.N66_Q67insFs
c.196_199dup4
1 paper
NM_012153.6
p.T65_N66insFs
c.195_196insA
1 paper
NM_012153.6
p.Q67insFs
c.199dupC
1 paper
NM_012153.6
p.Q76*
c.226C>T
1 paper
NM_012153.6
p.Q76H
c.228A>C
1 paper
NM_012153.6
p.Q76H
c.228A>T
1 paper
NM_012153.6
p.H84Y
c.250C>T
1 paper
NM_012153.6
p.L85L
c.255C>T
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