Varaico: Literature-Extracted Genetic Variants

Gene:GRHL3
Variant:p.E522fs

GRHL3

116 papers

RefSeq Summary

This gene encodes a member of the grainyhead family of transcription factors. The encoded protein may function as a transcription factor during development, and has been shown to stimulate migration o...

Pfam Domains

CP2aa 212–421UCSCCP2 transcription factor
GRHL1_Caa 512–576UCSCGRHL1-like, C-terminal domain
GRHL1_Caa 512–576UCSCGRHL1-like, C-terminal domain

Gene Aliases

HGNC Name

grainyhead like transcription factor 3

HGNC Previous Symbol

TFCP2L4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_198173.3
p.E522fs
c.1564_1565fs
Surrounding Variants
1 paper
NM_198173.3
p.R520Q
c.1559G>A
1 paper
NM_198173.3
p.R520_R521delFs
c.1559_1562del4
1 paper
NM_198173.3
p.E524K
c.1570G>A
1 paper
NM_198173.3
p.D528fs
c.1582_1583fs
1 paper
NM_198173.3
p.A529V
c.1586C>T
1 paper
NM_198173.3
p.M531K
c.1592T>A
1 paper
NM_198173.3
p.D536N
c.1606G>A
2 papers
NM_001195010.2
p.V469Splc
c.1405+1G>A
NM_198173.3
p.V515Splc
c.1543+1G>A
1 paper
NM_198173.3
p.T496P
c.1486A>C
1 paper
NM_198173.3
p.R490H
c.1469G>A
2 papers
NM_198173.3
p.N484S
c.1451A>G
1 paper
NM_198173.3
p.S483C
c.1448C>G
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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."