Varaico: Literature-Extracted Genetic Variants

AHCYL1

65 papers

RefSeq Summary

The protein encoded by this gene interacts with inositol 1,4,5-trisphosphate receptor, type 1 and may be involved in the conversion of S-adenosyl-L-homocysteine to L-homocysteine and adenosine. Severa...

Pfam Domains

AdoHcyaseaa 104–241UCSCS-adenosyl-L-homocysteine hydrolase

AdoHcyaseaa 237–529UCSCS-adenosyl-L-homocysteine hydrolase

AdoHcyase_NADaa 289–450UCSCS-adenosyl-L-homocysteine hydrolase, NAD binding domain

Gene Aliases

HGNC Name

adenosylhomocysteinase like 1

HGNC Alias Symbols

XPVKONA; IRBIT; PPP1R78

Papers

RefSeq ID

Protein change

DNA change

1–12 of 67 variants

3 papers

NM_006621.7

p.S68A

c.202T>G

2 papers

NM_006621.7

p.Y28N

c.82T>A

2 papers

NM_006621.7

p.S71A

c.211T>G

2 papers

NM_006621.7

p.W174C

c.522G>C

2 papers

NM_006621.7

p.W174C

c.522G>T

1 paper

NM_006621.7

p.L9P

c.26T>C

1 paper

NM_006621.7

p.E26_K27delFs

c.78_79delGA

1 paper

NM_006621.7

p.T33S

c.97A>T

1 paper

NM_006621.7

p.Q41R

c.122A>G

1 paper

NM_006621.7

p.I42delFs

c.125_126delTC

1 paper

NM_006621.7

p.D47A

c.140A>C

1 paper

NM_006621.7

p.Q49H

c.147G>C