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.P542S

c.1624C>T

Surrounding Variants

1 paper

NM_005435.4

p.A540A

c.1620C>A

1 paper

NM_005435.4

p.R544W

c.1630A>T

1 paper

NM_005435.4

p.E545K

c.1633G>A

1 paper

NM_005435.4

p.E545*

c.1633G>T

2 papers

NM_005435.4

p.E545G

c.1634A>G

1 paper

NM_005435.4

p.T546A

c.1636A>G

1 paper

NM_005435.4

p.T546N

c.1637C>A

1 paper

NM_005435.4

p.T546I

c.1637C>T

1 paper

NM_005435.4

p.R536R

c.1606A>C

1 paper

NM_005435.4

p.A535T

c.1603G>A

1 paper

NM_005435.4

p.A550_R551del2

c.1648_1652del6

1 paper

NM_005435.4

p.R551H

c.1652G>A