Varaico: Literature-Extracted Genetic Variants

FRMD4A

89 papers

RefSeq Summary

This gene encodes a FERM domain-containing protein that regulates epithelial cell polarity. It connects ADP ribosylation factor 6 (ARF6) with the Par protein complex, which regulates the remodeling of...

Pfam Domains

FERM_Naa 24–86UCSCFERM N-terminal domain

FERM_Maa 104–221UCSCFERM central domain

FERM_Caa 225–326UCSCFERM C-terminal PH-like domain

Gene Aliases

HGNC Name

FERM domain containing 4A

HGNC Previous Symbol

FRMD4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_018027.5

p.T286M

c.857C>T

Surrounding Variants

1 paper

NM_018027.5

p.H275P

c.824A>C

1 paper

NM_018027.5

p.S271_E273delFs

c.813_819del7

1 paper

NM_018027.5

p.V272M

c.814G>A

1 paper

NM_018027.5

p.L260L

c.780G>A