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.K269E

c.805A>G

Surrounding Variants

1 paper

NM_000071.3

p.L268P

c.803T>C

1 paper

NM_000071.3

p.L268Q

c.803T>A

3 papers

NM_000071.3

p.K269del1

c.805_807delCTT

1 paper

NM_000071.3

p.E270V

c.809A>T

2 papers

NM_000071.3

p.K267M

c.800A>T

2 papers

NM_000071.3

p.K267R

c.800A>G

2 papers

NM_000071.3

p.K271E

c.811A>G

2 papers

NM_000071.3

p.K267E

c.799A>G

7 papers

NM_000071.3

p.E270del1

c.808_809delCTC

2 papers

NM_000071.3

p.R266M

c.797G>T

47 papers

NM_000071.3

p.R266K

c.797G>A

11 papers

NM_000071.3

p.R266G

c.796A>G