Varaico: Literature-Extracted Genetic Variants

Gene:GRHL2
Variant:p.G420delFs

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.G420delFs
c.1259delG
Surrounding Variants
7 papers
NM_024915.4
p.K419_G420Splc
c.1258-1G>A
3 papers
NM_024915.4
p.G420fs
c.1258_1259fs
1 paper
NM_024915.4
p.G420E
c.1259G>A
1 paper
NM_024915.4
p.R423K
c.1268G>A
4 papers
NM_024915.4
p.R426*
c.1276C>T
2 papers
NM_024915.4
p.T444_Q445delFs
c.1331_1335del5
1 paper
NM_024915.4
p.T444fs
c.1330_1331fs
1 paper
NM_024915.4
p.Q445*
c.1333C>T
5 papers
NM_024915.4
p.Q445R
c.1334A>G
1 paper
NM_024915.4
p.C446Y
c.1337G>A
1 paper
NM_024915.4
p.A456insFs
c.1366_1367insC
1 paper
NM_024915.4
p.Y467C
c.1400A>G
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