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

1–12 of 1026 variants

299 papers

NM_000071.3

p.I278T

c.833T>C

157 papers

NM_000071.3

p.G307S

c.919G>A

86 papers

NM_000071.3

p.A226V

c.677C>T

68 papers

NM_000071.3

p.R336C

c.1006C>T

58 papers

NM_000071.3

p.T191M

c.572C>T

57 papers

NM_000071.3

p.D444N

c.1330G>A

49 papers

NM_000071.3

p.S466L

c.1397C>T

48 papers

NM_000071.3

p.A114V

c.341C>T

47 papers

NM_000071.3

p.R266K

c.797G>A

44 papers

NM_000071.3

p.Y233Y

c.699C>T

43 papers

NM_000071.3

p.R125Q

c.374G>A

36 papers

NM_000071.3

p.R369C

c.1105C>T