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

8 papers

NM_000687.4

p.R38W

c.112C>T

Surrounding Variants

1 paper

NM_000687.4

p.R38R

c.112C>A

1 paper

NM_000687.4

p.R38L

c.113G>T

1 paper

NM_000687.4

p.E37D

c.111G>T

1 paper

NM_000687.4

p.E37D

c.111G>C

1 paper

NM_000687.4

p.R38Q

c.113G>A

1 paper

NM_000687.4

p.Y39C

c.116A>G

1 paper

NM_000687.4

p.R36W

c.106C>T

1 paper

NM_000687.4

p.A41T

c.121G>A

1 paper

NM_000687.4

p.S42A

c.124T>G

1 paper

NM_000687.4

p.R34C

c.100C>T

1 paper

NM_000687.4

p.M33T

c.98T>C

1 paper

NM_000687.4

p.M33L

c.97A>T