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

2 papers

NM_173558.4

p.R226H

c.677G>A

Surrounding Variants

1 paper

NM_173558.4

p.I227I

c.681C>A

1 paper

NM_173558.4

p.D215N

c.643G>A

1 paper

NM_173558.4

p.T214I

c.641C>T

1 paper

NM_173558.4

p.E208Q

c.622G>C

1 paper

NM_173558.4

p.D184fs

c.550_551fs

1 paper

NM_173558.4

p.D184delFs

c.551delA

1 paper

NM_173558.4

p.R181C

c.541C>T

1 paper

NM_173558.4

p.E231K

c.691G>A

1 paper

NM_173558.4

p.S233S

c.699G>A

1 paper

NM_173558.4

p.L238L

c.712C>T

1 paper

NM_173558.4

p.R248G

c.742A>G

1 paper

NM_173558.4

p.I260M

c.780C>G