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.P1064L

c.3191C>T

Surrounding Variants

1 paper

NM_005435.4

p.V1068A

c.3203T>C

2 papers

NM_005435.4

p.E1059K

c.3175G>A

1 paper

NM_005435.4

p.R1071insFs

c.3211_3212insGT

1 paper

NM_005435.4

p.E1072K

c.3214G>A

1 paper

NM_005435.4

p.D1052Splc

c.3154+2T>A

1 paper

NM_005435.4

p.E1048Q

c.3142G>C

1 paper

NM_005435.4

p.P1047S

c.3139C>T

1 paper

NM_005435.4

p.S1093S

c.3279C>A

1 paper

NM_005435.4

p.R989K

c.2966G>A

1 paper

NM_005435.4

p.L1115_S1125del11

c.3343_3374del33

1 paper

NM_005435.4

p.E1120E

c.3360G>A

1 paper

NM_005435.4

p.T1121_P1122insA

c.3361_3365ins3