Varaico: Literature-Extracted Genetic Variants

ARHGEF1

123 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 complex with ...

Pfam Domains

RGS-likeaa 42–232UCSCRegulator of G protein signalling-like domain

RhoGEFaa 420–603UCSCRhoGEF domain

PH_16aa 632–760UCSCPH domain

Gene Aliases

HGNC Name

Rho guanine nucleotide exchange factor 1

HGNC Alias Symbols

P115-RHOGEF; SUB1.5; LBCL2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004706.4

p.A841G

c.2522C>G

Surrounding Variants

1 paper

NM_004706.4

p.A841V

c.2522C>T

1 paper

NM_004706.4

p.F839C

c.2516T>G

1 paper

NM_004706.4

p.Q836E

c.2506C>G

1 paper

NM_004706.4

p.A847V

c.2540C>T

1 paper

NM_004706.4

p.S833A

c.2497T>G

1 paper

NM_004706.4

p.L875P

c.2624T>C

1 paper

NM_004706.4

p.E885_E886Splc

c.2656-9C>T

1 paper

NM_004706.4

p.E888*

c.2662G>T

1 paper

NM_004706.4

p.P909T

c.2725C>A

1 paper

NM_004706.4

p.L823L

c.2469C>A

1 paper

NM_004706.4

p.E820K

c.2458G>A

1 paper

NM_004706.4

p.P819P

c.2457C>T