Varaico: Literature-Extracted Genetic Variants

Gene:GRHL2
Variant:p.I482K

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
9 papers
NM_024915.4
p.I482K
c.1445T>A
Surrounding Variants
1 paper
NM_024915.4
p.P483R
c.1448C>G
3 papers
NM_024915.4
p.D484G
c.1451A>G
1 paper
NM_024915.4
p.H486insFs
c.1456dupC
1 paper
NM_024915.4
p.G494R
c.1480G>A
1 paper
NM_024915.4
p.G494R
c.1480G>C
1 paper
NM_024915.4
p.Y467C
c.1400A>G
1 paper
NM_024915.4
p.A456insFs
c.1366_1367insC
1 paper
NM_024915.4
p.C446Y
c.1337G>A
5 papers
NM_024915.4
p.Q445R
c.1334A>G
1 paper
NM_024915.4
p.Q445*
c.1333C>T
1 paper
NM_024915.4
p.T444fs
c.1330_1331fs
2 papers
NM_024915.4
p.T444_Q445delFs
c.1331_1335del5
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