Varaico: Literature-Extracted Genetic Variants

Gene:GRHL1
Variant:p.D398N

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
Selected Variant
1 paper
NM_198182.3
p.D398N
c.1192G>A
Surrounding Variants
4 papers
NM_198182.3
p.V397I
c.1189G>A
1 paper
NM_198182.3
p.P392A
c.1174C>G
1 paper
NM_198182.3
p.V410A
c.1229T>C
1 paper
NM_198182.3
p.T380A
c.1138A>G
1 paper
NM_198182.3
p.S374F
c.1121C>T
1 paper
NM_198182.3
p.S374A
c.1120T>G
1 paper
NM_198182.3
p.V371G
c.1112T>G
1 paper
NM_198182.3
p.K423_G424Splc
c.1269+6A>G
1 paper
NM_198182.3
p.K423_G424Splc
c.1269+8C>T
1 paper
NM_198182.3
p.K370_V371Splc
c.1111-28C>T
1 paper
NM_198182.3
p.R427Q
c.1280G>A
1 paper
NM_198182.3
p.E432fs
c.1294_1295fs
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