Varaico: Literature-Extracted Genetic Variants

Gene:GRHL2
Variant:p.E181K

GRHL2

136 papers

RefSeq Summary

The protein encoded by this gene is a transcription factor that can act as a homodimer or as a heterodimer with either GRHL1 or GRHL3. Defects in this gene are a cause of non-syndromic sensorineural d...

Pfam Domains

CP2aa 219–438UCSCCP2 transcription factor
GRHL1_Caa 535–624UCSCGRHL1-like, C-terminal domain

Gene Aliases

HGNC Name

grainyhead like transcription factor 2

HGNC Previous Symbols

DFNA28; TFCP2L3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024915.4
p.E181K
c.541G>A
Surrounding Variants
1 paper
NM_024915.4
p.E180K
c.538G>A
1 paper
NM_024915.4
p.Q182H
c.546A>T
1 paper
NM_024915.4
p.R183Q
c.548G>A
1 paper
NM_024915.4
p.R176R
c.526C>A
1 paper
NM_024915.4
p.R176W
c.526C>T
1 paper
NM_024915.4
p.I186T
c.557T>C
1 paper
NM_024915.4
p.P175R
c.524C>G
1 paper
NM_024915.4
p.D193_V194insFs
c.579_580ins4
1 paper
NM_024915.4
p.M168_E180del13
c.502_539del39
1 paper
NM_024915.4
p.V194E
c.581T>A
1 paper
NM_024915.4
p.I155S
c.464T>G
1 paper
NM_024915.4
p.R209S
c.625C>A
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