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.K211R

c.632A>G

Surrounding Variants

1 paper

NM_000071.3

p.K211*

c.631A>T

2 papers

NM_000071.3

p.L210Q

c.629T>A

1 paper

NM_000071.3

p.N212K

c.636C>G

1 paper

NM_000071.3

p.N212K

c.636C>A

2 papers

NM_000071.3

p.E213K

c.637G>A

2 papers

NM_000071.3

p.R209W

c.625C>T

1 paper

NM_000071.3

p.E213D

c.639A>T

1 paper

NM_000071.3

p.E213D

c.639A>C

2 papers

NM_000071.3

p.I214V

c.640A>G

1 paper

NM_000071.3

p.P215S

c.643C>T

1 paper

NM_000071.3

p.A207V

c.620C>T

1 paper

NM_000071.3

p.A207G

c.620C>G