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.P200P

c.600G>A

Surrounding Variants

4 papers

NM_000071.3

p.P200L

c.599C>T

1 paper

NM_000071.3

p.P200S

c.598C>T

1 paper

NM_000071.3

p.S202L

c.605C>T

1 paper

NM_000071.3

p.D198_S199insFs

c.594_595insG

1 paper

NM_000071.3

p.S202del1

c.604_606delTGA

5 papers

NM_000071.3

p.D198V

c.593A>T

1 paper

NM_000071.3

p.D198Y

c.592G>T

1 paper

NM_000071.3

p.V204M

c.610G>A

1 paper

NM_000071.3

p.R196S

c.588G>T

1 paper

NM_000071.3

p.R196S

c.588G>C

1 paper

NM_000071.3

p.R196K

c.587G>A

1 paper

NM_000071.3

p.R196W

c.586A>T