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

1–12 of 99 variants

3 papers

NM_001129729.3

p.D525G

c.1574A>G

3 papers

NM_001129729.3

p.S1159L

c.3476C>T

2 papers

NM_001129729.3

p.S79P

c.235T>C

2 papers

NM_001129729.3

p.R201W

c.601C>T

2 papers

NM_001129729.3

p.T412I

c.1235C>T

2 papers

NM_001129729.3

p.G723S

c.2167G>A

2 papers

NM_001129729.3

p.R749Q

c.2246G>A

2 papers

NM_001129729.3

p.R830H

c.2489G>A

2 papers

NM_001129729.3

p.G916C

c.2746G>T

2 papers

NM_001129729.3

p.R1064C

c.3190C>T

2 papers

NM_001129729.3

p.T1152Splc

c.3455-1G>C

1 paper

NM_001129729.3

p.R3K

c.8G>A