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.Q100_E101Splc

c.301-83G>A

Surrounding Variants

1 paper

NM_173558.4

p.E103K

c.307G>A

1 paper

NM_173558.4

p.V107I

c.319G>A

1 paper

NM_173558.4

p.A119E

c.356C>A

1 paper

NM_173558.4

p.R120R

c.360C>G

1 paper

NM_173558.4

p.L123P

c.368T>C

2 papers

NM_173558.4

p.V127G

c.380T>G

1 paper

NM_173558.4

p.R137C

c.409C>T

2 papers

NM_173558.4

p.D145N

c.433G>A

1 paper

NM_173558.4

p.D145E

c.435T>A

1 paper

NM_173558.4

p.D145E

c.435T>G

1 paper

NM_173558.4

p.N153I

c.458A>T

1 paper

NM_173558.4

p.R172C

c.514C>T