Varaico: Literature-Extracted Genetic Variants

Gene:GRHL1

GRHL1

74 papers

RefSeq Summary

This gene encodes a member of the grainyhead family of transcription factors. The encoded protein can exist as a homodimer or can form heterodimers with sister-of-mammalian grainyhead or brother-of-ma...

Pfam Domains

CP2aa 231–442UCSCCP2 transcription factor
GRHL1_Caa 528–617UCSCGRHL1-like, C-terminal domain

Gene Aliases

HGNC Name

grainyhead like transcription factor 1

HGNC Previous Symbol

TFCP2L2

Papers
RefSeq ID
Protein change
DNA change
1–12 of 76 variants
5 papers
NM_198182.3
p.N191S
c.572A>G
4 papers
NM_198182.3
p.V397I
c.1189G>A
2 papers
NM_198182.3
p.N117fs
c.349_350fs
2 papers
NM_198182.3
p.R327delFs
c.981delG
2 papers
NM_198182.3
p.Q328fs
c.982_983fs
2 papers
NM_198182.3
p.R536*
c.1606C>T
1 paper
NM_198182.3
p.M1_Y5delFs
c.1_13del13
1 paper
NM_198182.3
p.N7Splc
c.20+1150C>G
1 paper
NM_198182.3
p.V13V
c.39T>A
1 paper
NM_198182.3
p.N16I
c.47A>T
1 paper
NM_198182.3
p.R23W
c.67C>T
1 paper
NM_198182.3
p.R24Q
c.71G>A
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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."