Varaico: Literature-Extracted Genetic Variants

AHCY

187 papers

RefSeq Summary

S-adenosylhomocysteine hydrolase belongs to the adenosylhomocysteinase family. It catalyzes the reversible hydrolysis of S-adenosylhomocysteine (AdoHcy) to adenosine (Ado) and L-homocysteine (Hcy). Th...

Pfam Domains

AdoHcyaseaa 6–143UCSCS-adenosyl-L-homocysteine hydrolase

AdoHcyaseaa 140–431UCSCS-adenosyl-L-homocysteine hydrolase

AdoHcyase_NADaa 191–352UCSCS-adenosyl-L-homocysteine hydrolase, NAD binding domain

Gene Aliases

HGNC Name

adenosylhomocysteinase

HGNC Alias Symbols

SAHH; AdoHcyase

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000687.4

p.T136A

c.406A>G

Surrounding Variants

1 paper

NM_000687.4

p.L135I

c.403C>A

1 paper

NM_000687.4

p.D134insFs

c.401dupA

1 paper

NM_000687.4

p.G133G

c.399C>T

1 paper

NM_000687.4

p.H140Y

c.418C>T

1 paper

NM_000687.4

p.D130D

c.390C>T

2 papers

NM_000687.4

p.D130N

c.388G>A

1 paper

NM_000687.4

p.L129M

c.385C>A

17 papers

NM_000687.4

p.Y143C

c.428A>G

2 papers

NM_000687.4

p.Y143Y

c.429C>T

1 paper

NM_000687.4

p.P144P

c.432G>T

1 paper

NM_000687.4

p.Q145R

c.434A>G

5 papers

NM_000687.4

p.G123R

c.367G>C