Varaico: Literature-Extracted Genetic Variants

ARHGEF11

148 papers

RefSeq Summary

Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form a complex wit...

Pfam Domains

PDZaa 47–120UCSCPDZ domain

RGS-likeaa 307–486UCSCRegulator of G protein signalling-like domain

RhoGEFaa 738–921UCSCRhoGEF domain

PH_16aa 950–1079UCSCPH domain

Gene Aliases

HGNC Name

Rho guanine nucleotide exchange factor 11

HGNC Alias Symbols

KIAA0380; GTRAP48; PDZ-RHOGEF

Papers

RefSeq ID

Protein change

DNA change

1–12 of 184 variants

7 papers

NM_198236.3

p.D1427G

c.4280A>G

6 papers

NM_198236.3

p.S1456G

c.4366A>G

4 papers

NM_198236.3

p.H1467R

c.4400A>G

2 papers

NM_198236.3

p.R88Q

c.263G>A

2 papers

NM_198236.3

p.H305H

c.915C>T

2 papers

NM_198236.3

p.E446Q

c.1336G>C

2 papers

NM_198236.3

p.A447T

c.1339G>A

2 papers

NM_198236.3

p.R487H

c.1460G>A

2 papers

NM_198236.3

p.V1026M

c.3076G>A

2 papers

NM_198236.3

p.V1462A

c.4385T>C

1 paper

NM_198236.3

p.D10delFs

c.29delT

1 paper

NM_198236.3

p.R11R

c.33G>A