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

48 papers

NM_000071.3

p.A114V

c.341C>T

Surrounding Variants

1 paper

NM_000071.3

p.A114S

c.340G>T

1 paper

NM_000071.3

p.A114T

c.340G>A

1 paper

NM_000071.3

p.G115S

c.343G>A

1 paper

NM_000071.3

p.N113K

c.339C>A

1 paper

NM_000071.3

p.G115A

c.344G>C

1 paper

NM_000071.3

p.G115D

c.344G>A

25 papers

NM_000071.3

p.G116R

c.346G>C

28 papers

NM_000071.3

p.G116R

c.346G>A

1 paper

NM_000071.3

p.G116E

c.347G>A

1 paper

NM_000071.3

p.F112V

c.334T>G

1 paper

NM_000071.3

p.F111L

c.333C>G

1 paper

NM_000071.3

p.V118M

c.352G>A