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

1 paper

NM_018027.5

p.S795*

c.2384C>A

Surrounding Variants

1 paper

NM_018027.5

p.S798delFs

c.2392_2393delGA

1 paper

NM_018027.5

p.A790A

c.2370G>A

1 paper

NM_018027.5

p.A789delFs

c.2365_2366delGC

1 paper

NM_018027.5

p.M801delFs

c.2401_2402delAT

1 paper

NM_018027.5

p.N803delFs

c.2407_2408delTT

1 paper

NM_018027.5

p.R786W

c.2356C>T

1 paper

NM_018027.5

p.K778delFs

c.2332_2333delTT

2 papers

NM_018027.5

p.G812G

c.2436C>T

1 paper

NM_018027.5

p.S775S

c.2325G>A

1 paper

NM_018027.5

p.G815fs

c.2443_2444fs

1 paper

NM_018027.5

p.A816A

c.2448G>A

2 papers

NM_018027.5

p.A816_G819del0

c.2447_2455del9