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.K137M

c.410A>T

Surrounding Variants

7 papers

NM_000071.3

p.L136P

c.407T>C

1 paper

NM_000071.3

p.P138R

c.413C>G

11 papers

NM_000071.3

p.G139R

c.415G>C

10 papers

NM_000071.3

p.G139R

c.415G>A

1 paper

NM_000071.3

p.G139E

c.416G>A

1 paper

NM_000071.3

p.T135M

c.404C>T

1 paper

NM_000071.3

p.T135fs

c.403_404fs

2 papers

NM_000071.3

p.G134delFs

c.402delC

1 paper

NM_000071.3

p.D140N

c.418G>A

1 paper

NM_000071.3

p.G134G

c.402G>A

1 paper

NM_000071.3

p.G134V

c.401G>T

1 paper

NM_000071.3

p.G134E

c.401G>A