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

157 papers

NM_000071.3

p.G307S

c.919G>A

Surrounding Variants

1 paper

NM_000071.3

p.G305E

c.914G>A

1 paper

NM_000071.3

p.G305W

c.913G>T

12 papers

NM_000071.3

p.G305R

c.913G>C

13 papers

NM_000071.3

p.G305R

c.913G>A

2 papers

NM_000071.3

p.D309N

c.925G>A

2 papers

NM_000071.3

p.I311V

c.931A>G

21 papers

NM_000071.3

p.E302K

c.904G>A

1 paper

NM_000071.3

p.P312S

c.934C>T

1 paper

NM_000071.3

p.Y301Y

c.903C>T

1 paper

NM_000071.3

p.T313M

c.938C>T

1 paper

NM_000071.3

p.V314M

c.940G>A

3 papers

NM_000071.3

p.Q298H

c.894G>T