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

5 papers

NM_005435.4

p.L444P

c.1331T>C

Surrounding Variants

1 paper

NM_005435.4

p.E438A

c.1313A>C

1 paper

NM_005435.4

p.E438Q

c.1312G>C

1 paper

NM_005435.4

p.T435T

c.1305T>G

1 paper

NM_005435.4

p.T435A

c.1303A>G

1 paper

NM_005435.4

p.Q461*

c.1381C>T

1 paper

NM_005435.4

p.L465L

c.1393C>T

1 paper

NM_005435.4

p.L421Q

c.1262T>A

2 papers

NM_005435.4

p.E472K

c.1414G>A

3 papers

NM_005435.4

p.E473E

c.1419G>A

1 paper

NM_005435.4

p.P475S

c.1423C>T

1 paper

NM_005435.4

p.P413S

c.1237C>T

1 paper

NM_005435.4

p.I411_D415delFs

c.1233_1243del11