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

4 papers

NM_000071.3

p.T236N

c.707C>A

Surrounding Variants

1 paper

NM_000071.3

p.T236A

c.706A>G

1 paper

NM_000071.3

p.A237T

c.709G>A

1 paper

NM_000071.3

p.D234del1

c.700_702delGTC

3 papers

NM_000071.3

p.D238E

c.714T>G

2 papers

NM_000071.3

p.D238E

c.714T>A

19 papers

NM_000071.3

p.D234N

c.700G>A

8 papers

NM_000071.3

p.E239K

c.715G>A

44 papers

NM_000071.3

p.Y233Y

c.699C>T

1 paper

NM_000071.3

p.Y233F

c.698A>T

2 papers

NM_000071.3

p.Y233D

c.697T>G

2 papers

NM_000071.3

p.I240V

c.718A>G

1 paper

NM_000071.3

p.I240L

c.718A>C