Varaico: Literature-Extracted Genetic Variants

PLEKHG4

76 papers

RefSeq Summary

The protein encoded by this gene can function as a guanine nucleotide exchange factor (GEF) and may play a role in intracellular signaling and cytoskeleton dynamics at the Golgi apparatus. Polymorphis...

Pfam Domains

KIAA1755_Caa 589–644UCSCKIAA1755 C-terminal domain

RhoGEFaa 736–906UCSCRhoGEF domain

SOS1_NGEF_PHaa 921–1025UCSCSOS1/NGEF-like PH domain

Gene Aliases

HGNC Name

pleckstrin homology and RhoGEF domain containing G4

HGNC Previous Symbol

SCA4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001129729.3

p.T1152Splc

c.3455-1G>C

Surrounding Variants

3 papers

NM_001129729.3

p.S1159L

c.3476C>T

1 paper

NM_001129729.3

p.S1173C

c.3517A>T

1 paper

NM_001129729.3

p.G1110E

c.3329G>A

1 paper

NM_001129729.3

p.P1085L

c.3254C>T

1 paper

NM_001129729.3

p.I1081V

c.3241A>G

1 paper

NM_001129729.3

p.A1079V

c.3236C>T

1 paper

NM_001129729.3

p.T1065T

c.3195C>T

1 paper

NM_001129729.3

p.R1064R

c.3192C>T

2 papers

NM_001129729.3

p.R1064C

c.3190C>T

1 paper

NM_001129729.3

p.A1001V

c.3002C>T

1 paper

NM_001129729.3

p.N989S

c.2966A>G

1 paper

NM_001129729.3

p.T982I

c.2945C>T