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.I278ins3

c.832_833ins9

Surrounding Variants

1 paper

NM_000071.3

p.I278fs

c.832_833fs

1 paper

NM_000071.3

p.I278insFs

c.832_833ins7

1 paper

NM_000071.3

p.I278insFs

c.832_833ins46

3 papers

NM_000071.3

p.I278S

c.833T>G

299 papers

NM_000071.3

p.I278T

c.833T>C

1 paper

NM_000071.3

p.I278fs

c.832_833fs

1 paper

NM_000071.3

p.I277T

c.830T>C

1 paper

NM_000071.3

p.G279W

c.835G>T

1 paper

NM_000071.3

p.I277L

c.829A>C

2 papers

NM_000071.3

p.R276_I277Splc

c.829-2A>T

2 papers

NM_000071.3

p.V280A

c.839T>C

5 papers

NM_000071.3

p.D281N

c.841G>A