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.H433Y

c.1297C>T

Surrounding Variants

2 papers

NM_000071.3

p.H433L

c.1298A>T

31 papers

NM_000071.3

p.H433P

c.1298A>C

1 paper

NM_000071.3

p.H433_T434insFs

c.1299_1300insA

1 paper

NM_000071.3

p.T434A

c.1300A>G

9 papers

NM_000071.3

p.T434N

c.1301C>A

2 papers

NM_000071.3

p.C431S

c.1292G>C

2 papers

NM_000071.3

p.C431S

c.1291T>A

22 papers

NM_000071.3

p.I435T

c.1304T>C

1 paper

NM_000071.3

p.T430I

c.1289C>T

1 paper

NM_000071.3

p.T430N

c.1289C>A

2 papers

NM_000071.3

p.I429del1

c.1285_1286delGAT

1 paper

NM_000071.3

p.E436K

c.1306G>A