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.E63D

c.189G>C

Surrounding Variants

1 paper

NM_005435.4

p.E63D

c.189G>T

1 paper

NM_005435.4

p.E63Q

c.187G>C

1 paper

NM_005435.4

p.L64_R65insFs

c.192_193insG

1 paper

NM_005435.4

p.R65_D66ins4

c.193_197ins12

1 paper

NM_005435.4

p.Q61H

c.183G>C

1 paper

NM_005435.4

p.Q61H

c.183G>T

1 paper

NM_005435.4

p.Q61P

c.182A>C

2 papers

NM_005435.4

p.Q61R

c.182A>G

1 paper

NM_005435.4

p.D66N

c.196G>A

1 paper

NM_005435.4

p.D66A

c.197A>C

1 paper

NM_005435.4

p.T59I

c.176C>T

1 paper

NM_005435.4

p.T59S

c.175A>T