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.L241V

c.721C>G

Surrounding Variants

2 papers

NM_000071.3

p.L241L

c.721C>T

1 paper

NM_000071.3

p.L241P

c.722T>C

2 papers

NM_000071.3

p.I240T

c.719T>C

2 papers

NM_000071.3

p.I240V

c.718A>G

1 paper

NM_000071.3

p.I240L

c.718A>C

1 paper

NM_000071.3

p.Q242R

c.725A>G

8 papers

NM_000071.3

p.E239K

c.715G>A

2 papers

NM_000071.3

p.Q243*

c.727C>T

3 papers

NM_000071.3

p.D238E

c.714T>G

2 papers

NM_000071.3

p.D238E

c.714T>A

1 paper

NM_000071.3

p.Q243_C244insFs

c.729_730insTT

1 paper

NM_000071.3

p.A237T

c.709G>A