Varaico: Literature-Extracted Genetic Variants

AHCYL2

29 papers

RefSeq Summary

The protein encoded by this gene acts as a homotetramer and may be involved in the conversion of S-adenosyl-L-homocysteine to L-homocysteine and adenosine. Several transcript variants encoding differe...

Pfam Domains

AdoHcyaseaa 185–322UCSCS-adenosyl-L-homocysteine hydrolase

AdoHcyaseaa 319–610UCSCS-adenosyl-L-homocysteine hydrolase

AdoHcyase_NADaa 370–531UCSCS-adenosyl-L-homocysteine hydrolase, NAD binding domain

Gene Aliases

HGNC Name

adenosylhomocysteinase like 2

HGNC Alias Symbols

KIAA0828; long-IRBIT; IRBIT2; ADOHCYASE3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015328.4

p.G197R

c.589G>C

Surrounding Variants

1 paper

NM_015328.4

p.G197R

c.589G>A

1 paper

NM_015328.4

p.C187S

c.560G>C

1 paper

NM_015328.4

p.C187S

c.559T>A

1 paper

NM_015328.4

p.E207Splc

c.619+63C>G

1 paper

NM_015328.4

p.S157R

c.471C>A

1 paper

NM_015328.4

p.S157R

c.471C>G

1 paper

NM_015328.4

p.S157R

c.469A>C

1 paper

NM_015328.4

p.S151A

c.451T>G

1 paper

NM_015328.4

p.S149A

c.445T>G

1 paper

NM_015328.4

p.A126T

c.376G>A