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

14 papers

NM_000071.3

p.W409*

c.1226G>A

Surrounding Variants

14 papers

NM_000071.3

p.W409*

c.1227G>A

2 papers

NM_000071.3

p.W408L

c.1223G>T

1 paper

NM_000071.3

p.W408R

c.1222T>C

1 paper

NM_000071.3

p.W408R

c.1222T>A

1 paper

NM_000071.3

p.W410*

c.1230G>A

12 papers

NM_000071.3

p.W408Splc

c.1224-2A>C

1 paper

NM_000071.3

p.L412F

c.1234C>T

1 paper

NM_000071.3

p.R413P

c.1238G>C

1 paper

NM_000071.3

p.R413H

c.1238G>A

1 paper

NM_000071.3

p.Q415*

c.1243C>T

1 paper

NM_000071.3

p.G418V

c.1253G>T

5 papers

NM_000071.3

p.S420*

c.1259C>G