Varaico: Literature-Extracted Genetic Variants

FGD2

70 papers

RefSeq Summary

The protein encoded by this gene belongs to a family of guanine nucleotide exchange factors (GEFs) which control cytoskeleton-dependent membrane rearrangements by activating the cell division cycle 42...

Pfam Domains

RhoGEFaa 106–288UCSCRhoGEF domain

SOS1_NGEF_PHaa 314–416UCSCSOS1/NGEF-like PH domain

FYVEaa 454–519UCSCFYVE zinc finger

PHaa 545–641UCSCPH domain

Gene Aliases

HGNC Name

FYVE, RhoGEF and PH domain containing 2

HGNC Alias Symbol

ZFYVE4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_173558.4

p.R322H

c.965G>A

Surrounding Variants

1 paper

NM_173558.4

p.S330P

c.988T>C

1 paper

NM_173558.4

p.D311D

c.933C>T

1 paper

NM_173558.4

p.R333H

c.998G>A

1 paper

NM_173558.4

p.D335N

c.1003G>A

2 papers

NM_173558.4

p.G308V

c.923G>T

2 papers

NM_173558.4

p.Q305L

c.914A>T

1 paper

NM_173558.4

p.Y340Y

c.1020C>T

1 paper

NM_173558.4

p.V303M

c.907G>A

1 paper

NM_173558.4

p.L343S

c.1028T>C

1 paper

NM_173558.4

p.I280delFs

c.838delA

1 paper

NM_173558.4

p.Y350C

c.1049A>G

1 paper

NM_173558.4

p.Q274H

c.822G>C