Varaico: Literature-Extracted Genetic Variants

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

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.K547T

c.1640A>C

Surrounding Variants

1 paper

NM_198173.3

p.Y548C

c.1643A>G

1 paper

NM_198173.3

p.N554S

c.1661A>G

2 papers

NM_198173.3

p.Y559*

c.1677C>A

2 papers

NM_198173.3

p.Y559*

c.1677C>G

1 paper

NM_198173.3

p.D536N

c.1606G>A

1 paper

NM_198173.3

p.M531K

c.1592T>A

1 paper

NM_198173.3

p.A529V

c.1586C>T

1 paper

NM_198173.3

p.D528fs

c.1582_1583fs

1 paper

NM_198173.3

p.E524K

c.1570G>A

1 paper

NM_198173.3

p.E522fs

c.1564_1565fs

1 paper

NM_198173.3

p.R520Q

c.1559G>A

1 paper

NM_198173.3

p.R520_R521delFs

c.1559_1562del4