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

Selected Variant

1 paper

NM_006621.7

p.S85A

c.253T>G

Surrounding Variants

1 paper

NM_006621.7

p.T82A

c.244A>G

1 paper

NM_006621.7

p.S90Y

c.269C>A

1 paper

NM_006621.7

p.A78_A79del1

c.233_235delCTG

1 paper

NM_006621.7

p.E124D

c.372G>C

1 paper

NM_006621.7

p.Q125_D126del1

c.374_376delAAG

1 paper

NM_006621.7

p.M127I

c.381G>A

1 paper

NM_006621.7

p.M127I

c.381G>C

1 paper

NM_006621.7

p.M127I

c.381G>T

1 paper

NM_006621.7

p.R136C

c.406C>T

1 paper

NM_006621.7

p.R136H

c.407G>A

1 paper

NM_006621.7

p.L143*

c.428T>A

1 paper

NM_006621.7

p.V149M

c.445G>A