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

2 papers

NM_000071.3

p.E291E

c.873G>A

Surrounding Variants

1 paper

NM_000071.3

p.E292V

c.875A>T

10 papers

NM_000071.3

p.P290L

c.869C>T

2 papers

NM_000071.3

p.L293V

c.877C>G

1 paper

NM_000071.3

p.P290Q

c.869C>A

3 papers

NM_000071.3

p.A288_P290delFs

c.864_868del5

1 paper

NM_000071.3

p.E289del1

c.865_866delCTC

1 paper

NM_000071.3

p.E289fs

c.865_866fs

3 papers

NM_000071.3

p.A288P

c.862G>C

8 papers

NM_000071.3

p.A288T

c.862G>A

1 paper

NM_000071.3

p.L287delFs

c.860delA

1 paper

NM_000071.3

p.T296M

c.887C>T

1 paper

NM_000071.3

p.T296R

c.887C>G