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.S352R

c.1054A>C

Surrounding Variants

5 papers

NM_000071.3

p.S352N

c.1055G>A

1 paper

NM_000071.3

p.S352R

c.1056C>G

1 paper

NM_000071.3

p.S352R

c.1056C>A

1 paper

NM_000071.3

p.G351S

c.1051G>A

30 papers

NM_000071.3

p.T353M

c.1058C>T

1 paper

NM_000071.3

p.A350V

c.1049C>T

1 paper

NM_000071.3

p.A350S

c.1048G>T

8 papers

NM_000071.3

p.V354M

c.1060G>A

1 paper

NM_000071.3

p.A350T

c.1048G>A

2 papers

NM_000071.3

p.V354G

c.1061T>G

9 papers

NM_000071.3

p.S349N

c.1046G>A

5 papers

NM_000071.3

p.A355P

c.1063G>C