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.T751P

c.2251A>C

Surrounding Variants

1 paper

NM_018027.5

p.R736H

c.2207G>A

1 paper

NM_018027.5

p.A766T

c.2296G>A

1 paper

NM_018027.5

p.T735fs

c.2203_2204fs

1 paper

NM_018027.5

p.N767delFs

c.2299_2300delTT

1 paper

NM_018027.5

p.T732insFs

c.2195_2196insAC

1 paper

NM_018027.5

p.T732A

c.2194A>G

1 paper

NM_018027.5

p.S775S

c.2325G>A

1 paper

NM_018027.5

p.K778delFs

c.2332_2333delTT

1 paper

NM_018027.5

p.L712_G716insFs

c.2134_2146dup13

1 paper

NM_018027.5

p.S711_Q715insFs

c.2133_2145dup13

1 paper

NM_018027.5

p.R786W

c.2356C>T

2 papers

NM_018027.5

p.G716fs

c.2146_2147fs