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.E876*

c.2626G>T

Surrounding Variants

1 paper

NM_001129729.3

p.R866C

c.2596C>T

1 paper

NM_001129729.3

p.P863T

c.2587C>A

1 paper

NM_001129729.3

p.Q895*

c.2683C>T

1 paper

NM_001129729.3

p.I914N

c.2741T>A

2 papers

NM_001129729.3

p.G916C

c.2746G>T

2 papers

NM_001129729.3

p.R830H

c.2489G>A

1 paper

NM_001129729.3

p.R939C

c.2815C>T

1 paper

NM_001129729.3

p.R944S

c.2830C>A

1 paper

NM_001129729.3

p.S956delFs

c.2867delG

1 paper

NM_001129729.3

p.R972C

c.2914C>T

1 paper

NM_001129729.3

p.T982I

c.2945C>T

1 paper

NM_001129729.3

p.N989S

c.2966A>G