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

1–12 of 178 variants

17 papers

NM_000687.4

p.Y143C

c.428A>G

9 papers

NM_000687.4

p.R49C

c.145C>T

8 papers

NM_000687.4

p.R38W

c.112C>T

8 papers

NM_000687.4

p.A89V

c.266C>T

7 papers

NM_000687.4

p.D86G

c.257A>G

7 papers

NM_000687.4

p.W112*

c.335G>A

7 papers

NM_000687.4

p.W112*

c.336G>A

6 papers

NM_000687.4

p.Y328D

c.982T>G

5 papers

NM_000687.4

p.G123R

c.367G>C

5 papers

NM_000687.4

p.G123R

c.367G>A

4 papers

NM_000687.4

p.I92V

c.274A>G

4 papers

NM_000687.4

p.K426R

c.1277A>G