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

4 papers

NM_000071.3

p.L230Q

c.689T>A

Surrounding Variants

1 paper

NM_000071.3

p.L230insFs

c.689_690insC

1 paper

NM_000071.3

p.L230P

c.689T>C

1 paper

NM_000071.3

p.L230fs

c.688_689fs

4 papers

NM_000071.3

p.L230delFs

c.689delA

1 paper

NM_000071.3

p.L230fs

c.688_689fs

4 papers

NM_000071.3

p.A231P

c.691G>C

14 papers

NM_000071.3

p.N228K

c.684C>G

7 papers

NM_000071.3

p.H232D

c.694C>G

14 papers

NM_000071.3

p.N228K

c.684C>A

11 papers

NM_000071.3

p.N228S

c.683A>G

1 paper

NM_000071.3

p.H232R

c.695A>G

2 papers

NM_000071.3

p.Y233D

c.697T>G