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.T93I

c.278C>T

Surrounding Variants

1 paper

NM_173558.4

p.Q100_E101Splc

c.300+19A>T

1 paper

NM_173558.4

p.S75F

c.224C>T

1 paper

NM_173558.4

p.R71M

c.212G>T

1 paper

NM_173558.4

p.S69T

c.206G>C

1 paper

NM_173558.4

p.V57I

c.169G>A

1 paper

NM_173558.4

p.E47A

c.140A>C

1 paper

NM_173558.4

p.E47K

c.139G>A

2 papers

NM_173558.4

p.Q32H

c.96G>C

2 papers

NM_173558.4

p.Q32H

c.96G>T

1 paper

NM_173558.4

p.A27G

c.80C>G

1 paper

NM_173558.4

p.Q100_E101Splc

c.301-83G>A

1 paper

NM_173558.4

p.E103K

c.307G>A