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

1 paper

NM_000071.3

p.R121S

c.361C>A

Surrounding Variants

10 papers

NM_000071.3

p.R121C

c.361C>T

8 papers

NM_000071.3

p.R121L

c.362G>T

2 papers

NM_000071.3

p.R121P

c.362G>C

12 papers

NM_000071.3

p.R121H

c.362G>A

2 papers

NM_000071.3

p.D120N

c.358G>A

1 paper

NM_000071.3

p.I122F

c.364A>T

1 paper

NM_000071.3

p.I122L

c.364A>C

1 paper

NM_000071.3

p.I122T

c.365T>C

1 paper

NM_000071.3

p.I122N

c.365T>A

3 papers

NM_000071.3

p.V118G

c.353T>G

1 paper

NM_000071.3

p.D120_S123delFs

c.359_368del10

1 paper

NM_000071.3

p.V118M

c.352G>A