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.R749Q

c.2246G>A

Surrounding Variants

1 paper

NM_001129729.3

p.R745Q

c.2234G>A

1 paper

NM_001129729.3

p.T754A

c.2260A>G

1 paper

NM_001129729.3

p.E744K

c.2230G>A

1 paper

NM_001129729.3

p.E756G

c.2267A>G

1 paper

NM_001129729.3

p.E761D

c.2283G>C

1 paper

NM_001129729.3

p.E761D

c.2283G>T

1 paper

NM_001129729.3

p.R764C

c.2290C>T

1 paper

NM_001129729.3

p.R772C

c.2314C>T

1 paper

NM_001129729.3

p.R786W

c.2356C>T

2 papers

NM_001129729.3

p.G723S

c.2167G>A

1 paper

NM_001129729.3

p.H694Y

c.2080C>T

1 paper

NM_001129729.3

p.S661_V663del3

c.1981_1988del9