Varaico: Literature-Extracted Genetic Variants

Gene:GRHL2
Variant:p.T45delFs

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
7 papers
NM_024915.4
p.T45delFs
c.133delA
Surrounding Variants
1 paper
NM_024915.4
p.T48N
c.143C>A
1 paper
NM_024915.4
p.T48T
c.144C>T
1 paper
NM_024915.4
p.A50T
c.148G>A
1 paper
NM_024915.4
p.W36*
c.108G>A
1 paper
NM_024915.4
p.W36*
c.107G>A
1 paper
NM_024915.4
p.N55K
c.165T>A
1 paper
NM_024915.4
p.G56_S60delFs
c.168_180del13
1 paper
NM_024915.4
p.E32*
c.94G>T
1 paper
NM_024915.4
p.D57E
c.171T>A
1 paper
NM_024915.4
p.D57E
c.171T>G
1 paper
NM_024915.4
p.A62T
c.184G>A
1 paper
NM_024915.4
p.A62P
c.184G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."