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.R290R

c.868A>C

Surrounding Variants

2 papers

NM_005435.4

p.G285E

c.854G>A

1 paper

NM_005435.4

p.T294T

c.882T>C

1 paper

NM_005435.4

p.D281E

c.843T>A

1 paper

NM_005435.4

p.D281E

c.843T>G

1 paper

NM_005435.4

p.Q280K

c.838C>A

1 paper

NM_005435.4

p.L300L

c.898C>T

1 paper

NM_005435.4

p.E306Q

c.916G>C

1 paper

NM_005435.4

p.K273_Q276delFs

c.818_827del10

1 paper

NM_005435.4

p.Q307H

c.921G>C

1 paper

NM_005435.4

p.Q307H

c.921G>T

1 paper

NM_005435.4

p.E308Q

c.922G>C

1 paper

NM_005435.4

p.D309D

c.927T>C