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.G493E

c.1478G>A

Surrounding Variants

1 paper

NM_005435.4

p.S496P

c.1486T>C

1 paper

NM_005435.4

p.L490L

c.1468C>T

1 paper

NM_005435.4

p.E487K

c.1459G>A

1 paper

NM_005435.4

p.E487Q

c.1459G>C

1 paper

NM_005435.4

p.T500A

c.1498A>G

1 paper

NM_005435.4

p.V502L

c.1504G>T

1 paper

NM_005435.4

p.A507S

c.1519G>T

1 paper

NM_005435.4

p.E478G

c.1433A>G

1 paper

NM_005435.4

p.V509insFs

c.1525_1526insG

1 paper

NM_005435.4

p.P511S

c.1531C>T

1 paper

NM_005435.4

p.P475S

c.1423C>T

1 paper

NM_005435.4

p.P512A

c.1534C>G