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.G812G

c.2436C>T

Surrounding Variants

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

1 paper

NM_018027.5

p.A813_G819del0

c.2438_2455del18

1 paper

NM_018027.5

p.G819delFs

c.2455_2456delCC

1 paper

NM_018027.5

p.A813_G819del7

c.2437_2456del21

1 paper

NM_018027.5

p.V820delFs

c.2458_2459delAC

1 paper

NM_018027.5

p.N803delFs

c.2407_2408delTT

1 paper

NM_018027.5

p.M801delFs

c.2401_2402delAT

1 paper

NM_018027.5

p.S798delFs

c.2392_2393delGA

1 paper

NM_018027.5

p.S795*

c.2384C>A

1 paper

NM_018027.5

p.A790A

c.2370G>A