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.E375A

c.1124A>C

Surrounding Variants

1 paper

NM_005435.4

p.E375fs

c.1123_1124fs

1 paper

NM_005435.4

p.Q374insFs

c.1121_1122insA

1 paper

NM_005435.4

p.G373_Q374insFs

c.1119_1120ins34

1 paper

NM_005435.4

p.L387V

c.1159C>G

1 paper

NM_005435.4

p.G388G

c.1164G>C

2 papers

NM_005435.4

p.A389G

c.1166C>G

1 paper

NM_005435.4

p.E360_D361insT

c.1078_1082ins3

1 paper

NM_005435.4

p.R394G

c.1180A>G

1 paper

NM_005435.4

p.E354K

c.1060G>A

3 papers

NM_005435.4

p.T347I

c.1040C>T

1 paper

NM_005435.4

p.A409delFs

c.1225delG

1 paper

NM_005435.4

p.Q341insFs

c.1022dupA