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.T983M

c.2948C>T

Surrounding Variants

1 paper

NM_018027.5

p.T983S

c.2947A>T

1 paper

NM_018027.5

p.L928P

c.2783T>C

1 paper

NM_018027.5

p.S925A

c.2773T>G

1 paper

NM_018027.5

p.R911C

c.2731C>T

1 paper

NM_018027.5

p.S908L

c.2723C>T

1 paper

NM_018027.5

p.R900Q

c.2699G>A

1 paper

NM_018027.5

p.T897T

c.2691G>A

1 paper

NM_018027.5

p.G888_D889ins0

c.2663_2665dupGCG

1 paper

NM_018027.5

p.G888G

c.2664C>T

1 paper

NM_018027.5

p.T846M

c.2537C>T

1 paper

NM_018027.5

p.V820delFs

c.2458_2459delAC

1 paper

NM_018027.5

p.A813_G819del7

c.2437_2456del21