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

6 papers

NM_000687.4

p.Y328D

c.982T>G

Surrounding Variants

1 paper

NM_000687.4

p.R327W

c.979C>T

1 paper

NM_000687.4

p.Q324_V325Splc

c.973-1G>A

1 paper

NM_000687.4

p.N332Y

c.994A>T

2 papers

NM_000687.4

p.R335C

c.1003C>T

1 paper

NM_000687.4

p.R335P

c.1004G>C

1 paper

NM_000687.4

p.R335H

c.1004G>A

1 paper

NM_000687.4

p.A340V

c.1019C>T

1 paper

NM_000687.4

p.G348V

c.1043G>T

1 paper

NM_000687.4

p.N360N

c.1080C>T

1 paper

NM_000687.4

p.M367I

c.1101G>T

1 paper

NM_000687.4

p.M367I

c.1101G>C

1 paper

NM_000687.4

p.M367I

c.1101G>A