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

4 papers

NM_000687.4

p.K426R

c.1277A>G

Surrounding Variants

1 paper

NM_000687.4

p.K426E

c.1276A>G

1 paper

NM_000687.4

p.H429P

c.1286A>C

1 paper

NM_000687.4

p.C421*

c.1263T>A

2 papers

NM_000687.4

p.C421S

c.1262G>C

1 paper

NM_000687.4

p.C421S

c.1261T>A

1 paper

NM_000687.4

p.R431R

c.1293C>T

1 paper

NM_000687.4

p.*433S

c.1298G>C

1 paper

NM_000687.4

p.G418R

c.1252G>C

1 paper

NM_000687.4

p.T410fs

c.1228_1229fs

1 paper

NM_000687.4

p.T410delFs

c.1229delG

1 paper

NM_000687.4

p.L406F

c.1218G>T

1 paper

NM_000687.4

p.V394M

c.1180G>A