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.Y182*

c.546T>A

Surrounding Variants

1 paper

NM_005435.4

p.S184delFs

c.550_551delTC

1 paper

NM_005435.4

p.D175E

c.525T>A

2 papers

NM_005435.4

p.D175A

c.524A>C

3 papers

NM_005435.4

p.D175G

c.524A>G

1 paper

NM_005435.4

p.D175V

c.524A>T

1 paper

NM_005435.4

p.P190S

c.568C>T

1 paper

NM_005435.4

p.D175N

c.523G>A

1 paper

NM_005435.4

p.A191E

c.572C>A

1 paper

NM_005435.4

p.A191V

c.572C>T

1 paper

NM_005435.4

p.S174A

c.520T>G

1 paper

NM_005435.4

p.E192_T193insG

c.574_578ins3

15 papers

NM_005435.4

p.E192*

c.574G>T