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.D377G

c.1130A>G

Surrounding Variants

1 paper

NM_000687.4

p.T374S

c.1121C>G

1 paper

NM_000687.4

p.P380H

c.1139C>A

1 paper

NM_000687.4

p.T374S

c.1120A>T

1 paper

NM_000687.4

p.V381I

c.1141G>A

1 paper

NM_000687.4

p.W373*

c.1119G>A

1 paper

NM_000687.4

p.W373*

c.1118G>A

1 paper

NM_000687.4

p.G382R

c.1144G>C

1 paper

NM_000687.4

p.G382R

c.1144G>A

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

1 paper

NM_000687.4

p.N360N

c.1080C>T