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.L1012V

c.3034C>G

Surrounding Variants

3 papers

NM_018027.5

p.P1005fs

c.3013_3014fs

1 paper

NM_018027.5

p.P1005A

c.3013C>G

2 papers

NM_018027.5

p.P1005fs

c.3013_3014fs

2 papers

NM_018027.5

p.P996L

c.2987C>T

1 paper

NM_018027.5

p.Q991H

c.2973G>T

1 paper

NM_018027.5

p.Q991H

c.2973G>C

1 paper

NM_018027.5

p.Q991K

c.2971C>A

1 paper

NM_018027.5

p.P988T

c.2962C>A

1 paper

NM_018027.5

p.T983M

c.2948C>T

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