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.H223Q

c.669T>G

Surrounding Variants

1 paper

NM_005435.4

p.H223Q

c.669T>A

1 paper

NM_005435.4

p.Q228*

c.682C>T

1 paper

NM_005435.4

p.V229G

c.686T>G

1 paper

NM_005435.4

p.E231A

c.692A>C

1 paper

NM_005435.4

p.E231_E232insFs

c.693_694insA

1 paper

NM_005435.4

p.E232insFs

c.694_695insA

1 paper

NM_005435.4

p.G234A

c.701G>C

1 paper

NM_005435.4

p.P212_Q216delins

c.635_646delinsCTC

1 paper

NM_005435.4

p.P212A

c.634C>G

1 paper

NM_005435.4

p.L210L

c.630G>A

1 paper

NM_005435.4

p.E209G

c.626A>G

3 papers

NM_005435.4

p.F240L

c.718T>C