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.V454A

c.1361T>C

Surrounding Variants

1 paper

NM_000071.3

p.V454E

c.1361T>A

1 paper

NM_000071.3

p.V454fs

c.1360_1361fs

1 paper

NM_000071.3

p.I455N

c.1364T>A

3 papers

NM_000071.3

p.G453Splc

c.1359-1G>C

1 paper

NM_000071.3

p.G453E

c.1358G>A

12 papers

NM_000071.3

p.L456P

c.1367T>C

2 papers

NM_000071.3

p.G457E

c.1370G>A

1 paper

NM_000071.3

p.M458T

c.1373T>C

1 paper

NM_000071.3

p.T460M

c.1379C>T

1 paper

NM_000071.3

p.G462insFs

c.1384_1385ins4

1 paper

NM_000071.3

p.M464I

c.1392G>T

1 paper

NM_000071.3

p.M464I

c.1392G>C