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

2 papers

NM_000071.3

p.L345P

c.1034T>C

Surrounding Variants

12 papers

NM_000071.3

p.G347S

c.1039G>A

4 papers

NM_000071.3

p.G347Splc

c.1039+1G>T

1 paper

NM_000071.3

p.G347Splc

c.1039+1G>A

2 papers

NM_000071.3

p.Q341H

c.1023A>T

2 papers

NM_000071.3

p.Q341H

c.1023A>C

1 paper

NM_000071.3

p.Q341*

c.1021C>T

1 paper

NM_000071.3

p.A340V

c.1019C>T

8 papers

NM_000071.3

p.L338P

c.1013T>C

1 paper

NM_000071.3

p.L338V

c.1012C>G

1 paper

NM_000071.3

p.M337delFs

c.1011delC

3 papers

NM_000071.3

p.M337insFs

c.1010_1011insT

1 paper

NM_000071.3

p.M337R

c.1010T>G