Varaico: Literature-Extracted Genetic Variants

ARHGEF5

570 papers

RefSeq Summary

Rho GTPases play a fundamental role in numerous cellular processes initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form a complex with G prote...

Pfam Domains

ARHGEF5_35aa 1–478UCSCRhoGEF 5/35 N-terminal disordered region

RhoGEFaa 1178–1356UCSCRhoGEF domain

PHaa 1390–1500UCSCPH domain

SH3_1aa 1517–1563UCSCSH3 domain

Gene Aliases

HGNC Name

Rho guanine nucleotide exchange factor 5

HGNC Alias Symbols

TIM; TIM1; GEF5; P60

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005435.4

p.G318R

c.952G>C

Surrounding Variants

1 paper

NM_005435.4

p.G318R

c.952G>A

1 paper

NM_005435.4

p.Q317*

c.949C>T

1 paper

NM_005435.4

p.G316Fs

c.946_947delinsAFs

1 paper

NM_005435.4

p.Q322insFs

c.965_966insC

1 paper

NM_005435.4

p.R312R

c.936G>A

1 paper

NM_005435.4

p.E311K

c.931G>A

1 paper

NM_005435.4

p.E325A

c.974A>C

1 paper

NM_005435.4

p.D309D

c.927T>C

1 paper

NM_005435.4

p.E308Q

c.922G>C

1 paper

NM_005435.4

p.Q307H

c.921G>C

1 paper

NM_005435.4

p.Q307H

c.921G>T

1 paper

NM_005435.4

p.E329G

c.986A>G