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

7 papers

NM_000687.4

p.W112*

c.336G>A

Surrounding Variants

1 paper

NM_000687.4

p.C113S

c.337T>A

7 papers

NM_000687.4

p.W112*

c.335G>A

1 paper

NM_000687.4

p.C113S

c.338G>C

1 paper

NM_000687.4

p.E115G

c.344A>G

2 papers

NM_000687.4

p.E108K

c.322G>A

5 papers

NM_000687.4

p.G123R

c.367G>C

5 papers

NM_000687.4

p.G123R

c.367G>A

1 paper

NM_000687.4

p.Y100*

c.300T>A

1 paper

NM_000687.4

p.L129M

c.385C>A

2 papers

NM_000687.4

p.D130N

c.388G>A

1 paper

NM_000687.4

p.D130D

c.390C>T

1 paper

NM_000687.4

p.G133G

c.399C>T