Varaico: Literature-Extracted Genetic Variants

Gene:GRHL2
Variant:p.N7Splc

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.N7Splc
c.20+544G>T
Surrounding Variants
2 papers
NM_024915.4
p.N7Splc
c.20+1G>A
1 paper
NM_024915.4
p.N7Splc
c.20+1276C>T
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