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.A51V

c.152C>T

Surrounding Variants

1 paper

NM_000687.4

p.G52R

c.154G>C

1 paper

NM_000687.4

p.G52D

c.155G>A

2 papers

NM_000687.4

p.R49H

c.146G>A

1 paper

NM_000687.4

p.C53Y

c.158G>A

9 papers

NM_000687.4

p.R49C

c.145C>T

2 papers

NM_000687.4

p.A48T

c.142G>A

NM_001322086.2

p.A50T

c.148G>A

1 paper

NM_000687.4

p.G47G

c.141C>T

1 paper

NM_000687.4

p.G47D

c.140G>A

1 paper

NM_000687.4

p.T57I

c.170C>T

2 papers

NM_000687.4

p.T57T

c.171C>T

1 paper

NM_000687.4

p.S42A

c.124T>G

1 paper

NM_000687.4

p.A41T

c.121G>A