Varaico: Literature-Extracted Genetic Variants

ALS2

522 papers

RefSeq Summary

The protein encoded by this gene contains an ATS1/RCC1-like domain, a RhoGEF domain, and a vacuolar protein sorting 9 (VPS9) domain, all of which are guanine-nucleotide exchange factors that activate ...

Pfam Domains

RCC1aa 109–165UCSCRegulator of chromosome condensation (RCC1) repeat

RCC1aa 170–216UCSCRegulator of chromosome condensation (RCC1) repeat

RCC1aa 527–574UCSCRegulator of chromosome condensation (RCC1) repeat

RCC1aa 577–625UCSCRegulator of chromosome condensation (RCC1) repeat

DH_Alsinaa 714–896UCSCAlsin, DH domain

PH_alsinaa 900–1010UCSCAlsin PH-like domain

Gene Aliases

HGNC Name

alsin Rho guanine nucleotide exchange factor ALS2

HGNC Previous Symbol

ALS2CR6

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

14 papers

NM_020919.4

p.G37R

c.109G>C

Surrounding Variants

1 paper

NM_020919.4

p.G37S

c.109G>A

1 paper

NM_020919.4

p.G37G

c.111C>G

1 paper

NM_020919.4

p.P36S

c.106C>T

1 paper

NM_020919.4

p.G39E

c.116G>A

1 paper

NM_020919.4

p.E33G

c.98A>G

1 paper

NM_020919.4

p.E33insFs

c.97_98insG

1 paper

NM_020919.4

p.K41M

c.122A>T

1 paper

NM_020919.4

p.K41R

c.122A>G

1 paper

NM_020919.4

p.T31T

c.93A>G

1 paper

NM_020919.4

p.T31I

c.92C>T

1 paper

NM_020919.4

p.T31S

c.91A>T

1 paper

NM_020919.4

p.I30V

c.88A>G