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

1 paper

NM_001129729.3

p.L228F

c.682C>T

Surrounding Variants

1 paper

NM_001129729.3

p.S221del1

c.661_663delTCT

1 paper

NM_001129729.3

p.Q204L

c.611A>T

1 paper

NM_001129729.3

p.R240Splc

c.719+36C>T

2 papers

NM_001129729.3

p.R201W

c.601C>T

1 paper

NM_001129729.3

p.G199Splc

c.595+46C>T

1 paper

NM_001129729.3

p.G199Splc

c.595+37G>A

1 paper

NM_001129729.3

p.R255Q

c.764G>A

1 paper

NM_001129729.3

p.R255P

c.764G>C

1 paper

NM_001129729.3

p.L189delFs

c.567delG

1 paper

NM_001129729.3

p.L189fs

c.565_566fs

1 paper

NM_001129729.3

p.S171_G172insFs

c.513_514insTT

1 paper

NM_001129729.3

p.A167Splc

c.500-9C>T