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

1–12 of 100 variants

3 papers

NM_018027.5

p.N580ins1

c.1738_1739insGCG

3 papers

NM_018027.5

p.P1005fs

c.3013_3014fs

2 papers

NM_018027.5

p.T286M

c.857C>T

2 papers

NM_018027.5

p.G716fs

c.2146_2147fs

2 papers

NM_018027.5

p.T751P

c.2251A>C

2 papers

NM_018027.5

p.G812G

c.2436C>T

2 papers

NM_018027.5

p.A816_G819del0

c.2447_2455del9

2 papers

NM_018027.5

p.P996L

c.2987C>T

2 papers

NM_018027.5

p.P1005fs

c.3013_3014fs

1 paper

NM_018027.5

p.M1R

c.2T>G

1 paper

NM_018027.5

p.M15_M16Splc

c.45+86658A>G

1 paper

NM_018027.5

p.M15_M16Splc

c.45+120896A>G