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.V189delFs

c.566_567delCA

Surrounding Variants

2 papers

NM_000071.3

p.V189A

c.566T>C

1 paper

NM_000071.3

p.V189fs

c.565_566fs

58 papers

NM_000071.3

p.T191M

c.572C>T

2 papers

NM_000071.3

p.T191T

c.573G>A

2 papers

NM_000071.3

p.I188V

c.562A>G

1 paper

NM_000071.3

p.L184_G185delFs

c.552_555del4

1 paper

NM_000071.3

p.G185V

c.554G>T

2 papers

NM_000071.3

p.D179_G185del0

c.536_553del18

1 paper

NM_000071.3

p.A195V

c.584C>T

2 papers

NM_000071.3

p.L184P

c.551T>C

1 paper

NM_000071.3

p.L184V

c.550C>G

1 paper

NM_000071.3

p.R196W

c.586A>T