Varaico: Literature-Extracted Genetic Variants

FGD4

114 papers

RefSeq Summary

This gene encodes a protein that is involved in the regulation of the actin cytoskeleton and cell shape. This protein contains an actin filament-binding domain, which together with its Dbl homology do...

Pfam Domains

RhoGEFaa 117–298UCSCRhoGEF domain

PHaa 330–428UCSCPH domain

FYVEaa 462–527UCSCFYVE zinc finger

PHaa 551–647UCSCPH domain

Gene Aliases

HGNC Name

FYVE, RhoGEF and PH domain containing 4

HGNC Alias Symbols

FRABP; frabin; ZFYVE6; CMT4H

Papers

RefSeq ID

Protein change

DNA change

1–12 of 125 variants

5 papers

NM_139241.3

p.M298T

c.893T>C

5 papers

NM_139241.3

p.M298R

c.893T>G

4 papers

NM_139241.3

p.R224*

c.670C>T

4 papers

NM_139241.3

p.R275*

c.823C>T

4 papers

NM_139241.3

p.R442H

c.1325G>A

4 papers

NM_139241.3

p.M566I

c.1698G>A

4 papers

NM_139241.3

p.M566I

c.1698G>C

4 papers

NM_139241.3

p.M566I

c.1698G>T

3 papers

NM_001370298.3

p.N8H

c.22A>C

3 papers

NM_001370298.3

p.N172insFs

c.514_515insG

3 papers

NM_139241.3

p.M298fs

c.892_893fs

3 papers

NM_001370298.3

p.K514_K515insG

c.1540_1544ins3