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

1–12 of 80 variants

2 papers

NM_173558.4

p.Q32H

c.96G>C

2 papers

NM_173558.4

p.Q32H

c.96G>T

2 papers

NM_173558.4

p.V127G

c.380T>G

2 papers

NM_173558.4

p.D145N

c.433G>A

2 papers

NM_173558.4

p.R226H

c.677G>A

2 papers

NM_173558.4

p.Q305L

c.914A>T

2 papers

NM_173558.4

p.G308V

c.923G>T

1 paper

NM_173558.4

p.M1I

c.3G>A

1 paper

NM_173558.4

p.M1I

c.3G>C

1 paper

NM_173558.4

p.M1_K2insFs

c.3_4insT

1 paper

NM_173558.4

p.M1I

c.3G>T

1 paper

NM_173558.4

p.E7*

c.19G>T