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.G246delFs

c.738delC

Surrounding Variants

1 paper

NM_000071.3

p.G246fs

c.736_737fs

1 paper

NM_000071.3

p.G246Splc

c.737-1G>C

1 paper

NM_000071.3

p.L248V

c.742C>G

1 paper

NM_000071.3

p.L248P

c.743T>C

1 paper

NM_000071.3

p.M250L

c.748A>T

1 paper

NM_000071.3

p.M250L

c.748A>C

6 papers

NM_000071.3

p.L251P

c.752T>C

2 papers

NM_000071.3

p.V252A

c.755T>C

2 papers

NM_000071.3

p.L251delFs

c.753delC

25 papers

NM_000071.3

p.T257M

c.770C>T

1 paper

NM_000071.3

p.K247_T257del0

c.740_769del30

2 papers

NM_000071.3

p.G258R

c.772G>C