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.R439W

c.1315C>T

Surrounding Variants

17 papers

NM_000071.3

p.R439Q

c.1316G>A

1 paper

NM_000071.3

p.L438insFs

c.1312dupC

2 papers

NM_000071.3

p.I437T

c.1310T>C

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.E436K

c.1306G>A

22 papers

NM_000071.3

p.I435T

c.1304T>C

9 papers

NM_000071.3

p.T434N

c.1301C>A

2 papers

NM_000071.3

p.D444Y

c.1330G>T

1 paper

NM_000071.3

p.D444H

c.1330G>C

57 papers

NM_000071.3

p.D444N

c.1330G>A

1 paper

NM_000071.3

p.T434A

c.1300A>G