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.N149_T150delFs

c.445_448del4

Surrounding Variants

1 paper

NM_000071.3

p.G151W

c.451G>T

6 papers

NM_000071.3

p.G151R

c.451G>A

2 papers

NM_000071.3

p.N149fs

c.445_446fs

2 papers

NM_000071.3

p.G151Splc

c.451+1G>A

1 paper

NM_000071.3

p.N149fs

c.445_446fs

3 papers

NM_000071.3

p.G148insFs

c.442_443insG

3 papers

NM_000071.3

p.G148delFs

c.444delC

16 papers

NM_000071.3

p.G148R

c.442G>C

17 papers

NM_000071.3

p.G148R

c.442G>A

19 papers

NM_000071.3

p.P145L

c.434C>T

1 paper

NM_000071.3

p.E144D

c.432G>C

27 papers

NM_000071.3

p.E144K

c.430G>A