Varaico: Literature-Extracted Genetic Variants

Gene:GRHL2
Variant:p.M168_E180del13

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.M168_E180del13
c.502_539del39
Surrounding Variants
1 paper
NM_024915.4
p.P175R
c.524C>G
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.E180K
c.538G>A
1 paper
NM_024915.4
p.I155S
c.464T>G
1 paper
NM_024915.4
p.E181K
c.541G>A
1 paper
NM_024915.4
p.Q182H
c.546A>T
1 paper
NM_024915.4
p.V152M
c.454G>A
1 paper
NM_024915.4
p.R183Q
c.548G>A
1 paper
NM_024915.4
p.P151delFs
c.452delC
1 paper
NM_024915.4
p.I186T
c.557T>C
1 paper
NM_024915.4
p.S146G
c.436A>G
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