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.E132_H133insFs

c.396_397insAC

Surrounding Variants

1 paper

NM_005435.4

p.I129T

c.386T>C

1 paper

NM_005435.4

p.A137D

c.410C>A

1 paper

NM_005435.4

p.A137G

c.410C>G

1 paper

NM_005435.4

p.S141N

c.422G>A

1 paper

NM_005435.4

p.D142N

c.424G>A

1 paper

NM_005435.4

p.P122S

c.364C>T

1 paper

NM_005435.4

p.P121insFs

c.361_362insT

1 paper

NM_005435.4

p.P121S

c.361C>T

1 paper

NM_005435.4

p.G144G

c.432A>T

1 paper

NM_005435.4

p.A120_P121insFs

c.360_361insT

1 paper

NM_005435.4

p.S145N

c.434G>A

1 paper

NM_005435.4

p.L119Q

c.356T>A