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

3 papers

NM_000071.3

p.E330_A331del1

c.989_991delCCT

Surrounding Variants

12 papers

NM_000071.3

p.A331V

c.992C>T

6 papers

NM_000071.3

p.A331E

c.992C>A

4 papers

NM_000071.3

p.D328N

c.982G>A

1 paper

NM_000071.3

p.A335T

c.1003G>A

2 papers

NM_000071.3

p.A335A

c.1005C>T

68 papers

NM_000071.3

p.R336C

c.1006C>T

16 papers

NM_000071.3

p.R336H

c.1007G>A

2 papers

NM_000071.3

p.K325N

c.975G>T

2 papers

NM_000071.3

p.K325N

c.975G>C

1 paper

NM_000071.3

p.M337fs

c.1009_1010fs

1 paper

NM_000071.3

p.M337R

c.1010T>G

3 papers

NM_000071.3

p.M337insFs

c.1010_1011insT