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

1 paper

NM_000071.3

p.D140N

c.418G>A

Surrounding Variants

1 paper

NM_000071.3

p.G139E

c.416G>A

11 papers

NM_000071.3

p.G139R

c.415G>C

10 papers

NM_000071.3

p.G139R

c.415G>A

2 papers

NM_000071.3

p.T141A

c.421A>G

1 paper

NM_000071.3

p.T141M

c.422C>T

1 paper

NM_000071.3

p.P138R

c.413C>G

2 papers

NM_000071.3

p.I142V

c.424A>G

1 paper

NM_000071.3

p.I142T

c.425T>C

2 papers

NM_000071.3

p.I142N

c.425T>A

1 paper

NM_000071.3

p.K137M

c.410A>T

1 paper

NM_000071.3

p.I143insFs

c.427dupA

1 paper

NM_000071.3

p.I143T

c.428T>C