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.A106T

c.316G>A

Surrounding Variants

1 paper

NM_005435.4

p.E105*

c.313G>T

2 papers

NM_005435.4

p.H103Q

c.309C>G

1 paper

NM_005435.4

p.H103delFs

c.309delC

1 paper

NM_005435.4

p.Q109*

c.325C>T

1 paper

NM_005435.4

p.Q109R

c.326A>G

1 paper

NM_005435.4

p.E102K

c.304G>A

1 paper

NM_005435.4

p.Q115*

c.343C>T

1 paper

NM_005435.4

p.R117K

c.350G>A

1 paper

NM_005435.4

p.L93R

c.278T>G

2 papers

NM_005435.4

p.L93F

c.277C>T

1 paper

NM_005435.4

p.L119Q

c.356T>A

1 paper

NM_005435.4

p.A120_P121insFs

c.360_361insT