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.K325N

c.975G>T

Surrounding Variants

2 papers

NM_000071.3

p.K325N

c.975G>C

1 paper

NM_000071.3

p.F324S

c.971T>C

11 papers

NM_000071.3

p.W323*

c.969G>A

9 papers

NM_000071.3

p.W323*

c.968G>A

4 papers

NM_000071.3

p.D328N

c.982G>A

1 paper

NM_000071.3

p.W323_F324ins10

c.967_971ins30

1 paper

NM_000071.3

p.W323G

c.967T>G

1 paper

NM_000071.3

p.D321del1

c.961_963delGTC

4 papers

NM_000071.3

p.D321V

c.962A>T

1 paper

NM_000071.3

p.V320G

c.959T>G

23 papers

NM_000071.3

p.V320A

c.959T>C

12 papers

NM_000071.3

p.A331V

c.992C>T