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.S47A

c.139T>G

Surrounding Variants

1 paper

NM_005435.4

p.S47Y

c.140C>A

1 paper

NM_005435.4

p.Y48N

c.142T>A

1 paper

NM_005435.4

p.Y48H

c.142T>C

1 paper

NM_005435.4

p.Y48S

c.143A>C

2 papers

NM_005435.4

p.Y48F

c.143A>T

1 paper

NM_005435.4

p.K49insFs

c.146dupA

1 paper

NM_005435.4

p.D45N

c.133G>A

1 paper

NM_005435.4

p.E44K

c.130G>A

1 paper

NM_005435.4

p.D43N

c.127G>A

1 paper

NM_005435.4

p.D43H

c.127G>C

1 paper

NM_005435.4

p.D43_P46delFs

c.128_138del11

1 paper

NM_005435.4

p.E52A

c.155A>C