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.M126T

c.377T>C

Surrounding Variants

10 papers

NM_000071.3

p.M126V

c.376A>G

2 papers

NM_000071.3

p.I127V

c.379A>G

1 paper

NM_000071.3

p.I127T

c.380T>C

1 paper

NM_000071.3

p.R125L

c.374G>T

1 paper

NM_000071.3

p.R125P

c.374G>C

43 papers

NM_000071.3

p.R125Q

c.374G>A

1 paper

NM_000071.3

p.I127M

c.381T>G

12 papers

NM_000071.3

p.R125W

c.373C>T

1 paper

NM_000071.3

p.L124R

c.371T>G

2 papers

NM_000071.3

p.L124P

c.371T>C

7 papers

NM_000071.3

p.E128D

c.384G>T

7 papers

NM_000071.3

p.E128D

c.384G>C