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.P475S

c.1423C>T

Surrounding Variants

1 paper

NM_000071.3

p.P475L

c.1424C>T

1 paper

NM_000071.3

p.S476_D477ins7

c.1426_1430ins21

1 paper

NM_000071.3

p.Q474*

c.1420C>T

2 papers

NM_000071.3

p.G471R

c.1411G>C

2 papers

NM_000071.3

p.G471R

c.1411G>A

1 paper

NM_000071.3

p.A470V

c.1409C>T

1 paper

NM_000071.3

p.G480V

c.1439G>T

1 paper

NM_000071.3

p.V482I

c.1444G>A

2 papers

NM_000071.3

p.S467C

c.1400C>G

1 paper

NM_000071.3

p.I483T

c.1448T>C

49 papers

NM_000071.3

p.S466L

c.1397C>T

2 papers

NM_000071.3

p.S466*

c.1397C>A