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

57 papers

NM_000071.3

p.D444N

c.1330G>A

Surrounding Variants

2 papers

NM_000071.3

p.D444Y

c.1330G>T

1 paper

NM_000071.3

p.D444H

c.1330G>C

1 paper

NM_000071.3

p.Q445*

c.1333C>T

4 papers

NM_000071.3

p.A446S

c.1336G>T

1 paper

NM_000071.3

p.A446T

c.1336G>A

1 paper

NM_000071.3

p.A446V

c.1337C>T

5 papers

NM_000071.3

p.K441*

c.1321A>T

1 paper

NM_000071.3

p.K441Q

c.1321A>C

1 paper

NM_000071.3

p.P447R

c.1340C>G

1 paper

NM_000071.3

p.V448M

c.1342G>A

17 papers

NM_000071.3

p.R439Q

c.1316G>A

1 paper

NM_000071.3

p.Q445_V448del4

c.1333_1343del12