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

1–12 of 345 variants

15 papers

NM_005435.4

p.E192*

c.574G>T

8 papers

NM_005435.4

p.M1insFs

c.1_2ins22

5 papers

NM_005435.4

p.L444P

c.1331T>C

5 papers

NM_005435.4

p.T514I

c.1541C>T

4 papers

NM_005435.4

p.G580C

c.1738G>T

3 papers

NM_005435.4

p.E5E

c.15G>A

3 papers

NM_005435.4

p.A10fs

c.28_29fs

3 papers

NM_005435.4

p.D175G

c.524A>G

3 papers

NM_005435.4

p.F240L

c.718T>C

3 papers

NM_005435.4

p.F240L

c.720T>A

3 papers

NM_005435.4

p.F240L

c.720T>G

3 papers

NM_005435.4

p.T347I

c.1040C>T