Varaico: Literature-Extracted Genetic Variants

CBS

891 papers

RefSeq Summary

The protein encoded by this gene acts as a homotetramer to catalyze the conversion of homocysteine to cystathionine, the first step in the transsulfuration pathway. The encoded protein is allosterical...

Pfam Domains

PALPaa 80–376UCSCPyridoxal-phosphate dependent enzyme

CBSaa 414–470UCSCCBS domain

Gene Aliases

HGNC Name

cystathionine beta-synthase

HGNC Alias Symbol

HIP4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

20 papers

NM_000071.3

p.A226T

c.676G>A

Surrounding Variants

1 paper

NM_000071.3

p.N225_A226Fs

c.675_676delinsGFs

86 papers

NM_000071.3

p.A226V

c.677C>T

2 papers

NM_000071.3

p.N225S

c.674A>G

1 paper

NM_000071.3

p.R224L

c.671G>T

1 paper

NM_000071.3

p.R224P

c.671G>C

10 papers

NM_000071.3

p.R224H

c.671G>A

2 papers

NM_000071.3

p.R224C

c.670C>T

1 paper

NM_000071.3

p.Y223Y

c.669C>T

11 papers

NM_000071.3

p.N228S

c.683A>G

14 papers

NM_000071.3

p.N228K

c.684C>G

14 papers

NM_000071.3

p.N228K

c.684C>A

1 paper

NM_000071.3

p.L230fs

c.688_689fs