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

9 papers

NM_000071.3

p.R276_I277Splc

c.828+1G>A

Surrounding Variants

3 papers

NM_000071.3

p.R276insFs

c.827_828insG

1 paper

NM_000071.3

p.R276K

c.827G>A

2 papers

NM_000071.3

p.C275*

c.825C>A

8 papers

NM_000071.3

p.C275Y

c.824G>A

1 paper

NM_000071.3

p.C275R

c.823T>C

2 papers

NM_000071.3

p.K271E

c.811A>G

7 papers

NM_000071.3

p.E270del1

c.808_809delCTC

1 paper

NM_000071.3

p.E270V

c.809A>T

3 papers

NM_000071.3

p.K269del1

c.805_807delCTT

1 paper

NM_000071.3

p.K269E

c.805A>G

1 paper

NM_000071.3

p.L268P

c.803T>C

1 paper

NM_000071.3

p.L268Q

c.803T>A