Varaico: Literature-Extracted Genetic Variants

Gene:EHF
Variant:p.T142T

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.T142T
c.426C>G
Surrounding Variants
2 papers
NM_012153.6
p.T152N
c.455C>A
1 paper
NM_012153.6
p.G155_V158delFs
c.464_474del11
1 paper
NM_012153.6
p.D159Splc
c.475+25G>A
1 paper
NM_012153.6
p.E136Splc
c.407-85T>C
1 paper
NM_012153.6
p.C167R
c.499T>C
1 paper
NM_012153.6
p.R168Q
c.503G>A
1 paper
NM_012153.6
p.Q170insFs
c.509_510insGT
1 paper
NM_012153.6
p.T174I
c.521C>T
1 paper
NM_012153.6
p.S124S
c.372C>G
1 paper
NM_012153.6
p.D120E
c.360C>A
1 paper
NM_012153.6
p.C117Y
c.350G>A
1 paper
NM_012153.6
p.G115Splc
c.344-17C>T
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