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.S420*

c.1259C>A

Surrounding Variants

5 papers

NM_000071.3

p.S420*

c.1259C>G

1 paper

NM_000071.3

p.G418V

c.1253G>T

27 papers

NM_000071.3

p.P422L

c.1265C>T

2 papers

NM_000071.3

p.L423P

c.1268T>C

4 papers

NM_000071.3

p.T424N

c.1271C>A

1 paper

NM_000071.3

p.V425M

c.1273G>A

1 paper

NM_000071.3

p.Q415*

c.1243C>T

1 paper

NM_000071.3

p.R413P

c.1238G>C

1 paper

NM_000071.3

p.R413H

c.1238G>A

3 papers

NM_000071.3

p.P427L

c.1280C>T

2 papers

NM_000071.3

p.T428I

c.1283C>T

1 paper

NM_000071.3

p.L412F

c.1234C>T