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.H758D

c.2272C>G

Surrounding Variants

1 paper

NM_005435.4

p.P771T

c.2311C>A

1 paper

NM_005435.4

p.S738_V739ins13

c.2212_2216ins39

1 paper

NM_005435.4

p.H722H

c.2166C>T

1 paper

NM_005435.4

p.S798insFs

c.2392_2393ins4

1 paper

NM_005435.4

p.S798fs

c.2392_2393fs

1 paper

NM_005435.4

p.P705_A706insFs

c.2115_2116insA

1 paper

NM_005435.4

p.L813I

c.2437C>A

1 paper

NM_005435.4

p.T702I

c.2105C>T

2 papers

NM_005435.4

p.P815A

c.2443C>G

1 paper

NM_005435.4

p.F700C

c.2099T>G

1 paper

NM_005435.4

p.D818_I827del10

c.2452_2480del30

1 paper

NM_005435.4

p.V693_S694insA

c.2077_2081ins3