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

3 papers

NM_005435.4

p.A10fs

c.28_29fs

Surrounding Variants

1 paper

NM_005435.4

p.A10fs

c.28_29fs

1 paper

NM_005435.4

p.A10V

c.29C>T

1 paper

NM_005435.4

p.S11Y

c.32C>A

1 paper

NM_005435.4

p.R8R

c.24T>A

1 paper

NM_005435.4

p.P12T

c.34C>A

1 paper

NM_005435.4

p.Q7K

c.19C>A

1 paper

NM_005435.4

p.Q7*

c.19C>T

3 papers

NM_005435.4

p.E5E

c.15G>A

1 paper

NM_005435.4

p.I14T

c.41T>C

1 paper

NM_005435.4

p.S15Y

c.44C>A

1 paper

NM_005435.4

p.E4D

c.12G>C

1 paper

NM_005435.4

p.A16D

c.47C>A