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.A338E

c.1013C>A

Surrounding Variants

2 papers

NM_005435.4

p.N336N

c.1008T>C

1 paper

NM_005435.4

p.S340A

c.1018T>G

1 paper

NM_005435.4

p.Q341insFs

c.1022dupA

1 paper

NM_005435.4

p.P333L

c.998C>T

2 papers

NM_005435.4

p.Q331K

c.991C>A

1 paper

NM_005435.4

p.E329G

c.986A>G

3 papers

NM_005435.4

p.T347I

c.1040C>T

1 paper

NM_005435.4

p.E325A

c.974A>C

1 paper

NM_005435.4

p.E354K

c.1060G>A

1 paper

NM_005435.4

p.Q322insFs

c.965_966insC

1 paper

NM_005435.4

p.G318R

c.952G>A

1 paper

NM_005435.4

p.G318R

c.952G>C