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.A26T

c.76G>A

Surrounding Variants

1 paper

NM_005435.4

p.E25_A26delFs

c.75_76delGG

1 paper

NM_005435.4

p.P27H

c.80C>A

1 paper

NM_005435.4

p.I23V

c.67A>G

1 paper

NM_005435.4

p.R29R

c.87G>A

1 paper

NM_005435.4

p.I22insFs

c.65_66ins4

1 paper

NM_005435.4

p.I22insFs

c.66dupT

1 paper

NM_005435.4

p.S30G

c.88A>G

1 paper

NM_005435.4

p.Q32K

c.94C>A

1 paper

NM_005435.4

p.E19K

c.55G>A

1 paper

NM_005435.4

p.E19Q

c.55G>C

1 paper

NM_005435.4

p.V33A

c.98T>C

1 paper

NM_005435.4

p.E18V

c.53A>T