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

13 papers

NM_000071.3

p.V371M

c.1111G>A

Surrounding Variants

2 papers

NM_000071.3

p.V371A

c.1112T>C

1 paper

NM_000071.3

p.C370C

c.1110C>T

6 papers

NM_000071.3

p.C370Y

c.1109G>A

1 paper

NM_000071.3

p.V372I

c.1114G>A

2 papers

NM_000071.3

p.V372A

c.1115T>C

3 papers

NM_000071.3

p.R369P

c.1106G>C

10 papers

NM_000071.3

p.R369H

c.1106G>A

36 papers

NM_000071.3

p.R369C

c.1105C>T

1 paper

NM_000071.3

p.Q368*

c.1102C>T

1 paper

NM_000071.3

p.L374V

c.1120C>G

1 paper

NM_000071.3

p.L374P

c.1121T>C

1 paper

NM_000071.3

p.G367V

c.1100G>T