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.D23N

c.67G>A

Surrounding Variants

1 paper

NM_000687.4

p.I24V

c.70A>G

1 paper

NM_000687.4

p.E26K

c.76G>A

1 paper

NM_000687.4

p.R19P

c.56G>C

1 paper

NM_000687.4

p.G18V

c.53G>T

1 paper

NM_000687.4

p.G18A

c.53G>C

1 paper

NM_000687.4

p.E28K

c.82G>A

1 paper

NM_000687.4

p.W17*

c.50G>A

1 paper

NM_000687.4

p.P30S

c.88C>T

1 paper

NM_000687.4

p.P30L

c.89C>T

1 paper

NM_000687.4

p.L32L

c.94C>T

1 paper

NM_000687.4

p.G13A

c.38G>C

1 paper

NM_000687.4

p.G13D

c.38G>A