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.E33K

c.97G>A

Surrounding Variants

1 paper

NM_001129729.3

p.Q40*

c.118C>T

1 paper

NM_001129729.3

p.V43F

c.127G>T

1 paper

NM_001129729.3

p.A53V

c.158C>T

1 paper

NM_001129729.3

p.N7S

c.20A>G

1 paper

NM_001129729.3

p.P4insFs

c.11_12insA

1 paper

NM_001129729.3

p.R3K

c.8G>A

2 papers

NM_001129729.3

p.S79P

c.235T>C

1 paper

NM_001129729.3

p.S91*

c.272C>A

1 paper

NM_001129729.3

p.S91*

c.272C>G

1 paper

NM_001129729.3

p.V125delFs

c.375delA

1 paper

NM_001129729.3

p.G152C

c.454G>T

1 paper

NM_001129729.3

p.E159D

c.477A>T