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

2 papers

NM_005435.4

p.D605A

c.1814A>C

Surrounding Variants

1 paper

NM_005435.4

p.S606F

c.1817C>T

1 paper

NM_005435.4

p.Q615K

c.1843C>A

1 paper

NM_005435.4

p.Q615H

c.1845G>C

1 paper

NM_005435.4

p.Q615H

c.1845G>T

1 paper

NM_005435.4

p.P589R

c.1766C>G

1 paper

NM_005435.4

p.P589L

c.1766C>T

1 paper

NM_005435.4

p.P589delFs

c.1765delC

1 paper

NM_005435.4

p.P582H

c.1745C>A

1 paper

NM_005435.4

p.S629_E630insFs

c.1887_1888insTA

4 papers

NM_005435.4

p.G580C

c.1738G>T

1 paper

NM_005435.4

p.Y579C

c.1736A>G

2 papers

NM_005435.4

p.Q633Q

c.1899G>A