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.E73G

c.218A>G

Surrounding Variants

1 paper

NM_005435.4

p.E73A

c.218A>C

1 paper

NM_005435.4

p.T74M

c.221C>T

1 paper

NM_005435.4

p.M75_P76del2

c.223_227del6

1 paper

NM_005435.4

p.A71G

c.212C>G

1 paper

NM_005435.4

p.P76_S77insFs

c.228_229insA

1 paper

NM_005435.4

p.D69A

c.206A>C

1 paper

NM_005435.4

p.D69V

c.206A>T

1 paper

NM_005435.4

p.C68Y

c.203G>A

1 paper

NM_005435.4

p.P79delFs

c.235delC

1 paper

NM_005435.4

p.D66A

c.197A>C

1 paper

NM_005435.4

p.K80M

c.239A>T

1 paper

NM_005435.4

p.D66N

c.196G>A