Varaico: Literature-Extracted Genetic Variants

Gene:GRHL2
Variant:p.N309T

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.N309T
c.926A>C
Surrounding Variants
1 paper
NM_024915.4
p.D311delFs
c.931_932delGA
1 paper
NM_024915.4
p.K308fs
c.922_923fs
1 paper
NM_024915.4
p.K308delFs
c.922delA
1 paper
NM_024915.4
p.E312fs
c.934_935fs
3 papers
NM_024915.4
p.Q313insFs
c.937dupC
1 paper
NM_024915.4
p.T326S
c.976A>T
1 paper
NM_024915.4
p.A327V
c.980C>T
1 paper
NM_024915.4
p.H291Q
c.873C>A
1 paper
NM_024915.4
p.E282G
c.845A>G
1 paper
NM_024915.4
p.S281G
c.841A>G
1 paper
NM_024915.4
p.A277T
c.829G>A
2 papers
NM_024915.4
p.E264G
c.791A>G
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