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.I264insFs

c.790_791insG

Surrounding Variants

2 papers

NM_000071.3

p.I264T

c.791T>C

1 paper

NM_000071.3

p.G263V

c.788G>T

2 papers

NM_000071.3

p.G256_T262delFs

c.767_786del20

32 papers

NM_000071.3

p.T262M

c.785C>T

8 papers

NM_000071.3

p.T262R

c.785C>G

11 papers

NM_000071.3

p.R266G

c.796A>G

1 paper

NM_000071.3

p.T262A

c.784A>G

2 papers

NM_000071.3

p.R266M

c.797G>T

47 papers

NM_000071.3

p.R266K

c.797G>A

2 papers

NM_000071.3

p.K267E

c.799A>G

2 papers

NM_000071.3

p.K267M

c.800A>T

2 papers

NM_000071.3

p.K267R

c.800A>G