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.A355V

c.1064C>T

Surrounding Variants

5 papers

NM_000071.3

p.A355P

c.1063G>C

2 papers

NM_000071.3

p.V354G

c.1061T>G

2 papers

NM_000071.3

p.V356A

c.1067T>C

8 papers

NM_000071.3

p.V354M

c.1060G>A

30 papers

NM_000071.3

p.T353M

c.1058C>T

3 papers

NM_000071.3

p.A357G

c.1070C>G

1 paper

NM_000071.3

p.V354_A357del0

c.1061_1069del9

1 paper

NM_000071.3

p.V358M

c.1072G>A

1 paper

NM_000071.3

p.S352R

c.1056C>G

1 paper

NM_000071.3

p.S352R

c.1056C>A

2 papers

NM_000071.3

p.V358A

c.1073T>C

5 papers

NM_000071.3

p.S352N

c.1055G>A