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.V361A

c.1082T>C

Surrounding Variants

1 paper

NM_001129729.3

p.V358M

c.1072G>A

1 paper

NM_001129729.3

p.A354delFs

c.1060delG

1 paper

NM_001129729.3

p.R336Q

c.1007G>A

1 paper

NM_001129729.3

p.G371S

c.1111G>A

1 paper

NM_001129729.3

p.E378K

c.1132G>A

1 paper

NM_001129729.3

p.S387*

c.1160C>A

1 paper

NM_001129729.3

p.S387L

c.1160C>T

1 paper

NM_001129729.3

p.L393_L401insFs

c.1179_1203dup25

1 paper

NM_001129729.3

p.L401insFs

c.1203dupG

1 paper

NM_001129729.3

p.T402fs

c.1204_1205fs

1 paper

NM_001129729.3

p.T402_W403Fs

c.1205_1207delinsAFs

2 papers

NM_001129729.3

p.T412I

c.1235C>T