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.D86G

c.257A>G

Surrounding Variants

1 paper

NM_000687.4

p.D86H

c.256G>C

1 paper

NM_000687.4

p.D86N

c.256G>A

1 paper

NM_000687.4

p.D86E

c.258C>G

1 paper

NM_000687.4

p.D86E

c.258C>A

8 papers

NM_000687.4

p.A89V

c.266C>T

4 papers

NM_000687.4

p.I92V

c.274A>G

1 paper

NM_000687.4

p.A95T

c.283G>A

1 paper

NM_000687.4

p.Q75H

c.225G>C

1 paper

NM_000687.4

p.Q75*

c.223C>T

1 paper

NM_000687.4

p.V74E

c.221T>A

3 papers

NM_000687.4

p.P98L

c.293C>T

1 paper

NM_000687.4

p.E73_V74Splc

c.220-2A>G