Varaico: Literature-Extracted Genetic Variants

NUDT12

23 papers

RefSeq Summary

Nucleotides are involved in numerous biochemical reactions and pathways within the cell as substrates, cofactors, and effectors. Nudix hydrolases, such as NUDT12, regulate the concentrations of indivi...

Pfam Domains

Ank_2aa 16–107UCSCAnkyrin repeats (3 copies)

NUDIX-likeaa 147–277UCSCNADH pyrophosphatase-like rudimentary NUDIX domain

Zn_ribbon_NUDaa 279–308UCSCNADH pyrophosphatase zinc ribbon domain

NUDIXaa 320–441UCSCNUDIX domain

Gene Aliases

HGNC Name

nudix hydrolase 12

HGNC Alias Symbol

DKFZP761I172

Papers

RefSeq ID

Protein change

DNA change

1–12 of 33 variants

2 papers

NM_031438.4

p.K129I

c.386A>T

2 papers

NM_031438.4

p.A386T

c.1156G>A

1 paper

NM_031438.4

p.S3insFs

c.7dupT

1 paper

NM_031438.4

p.A49V

c.146C>T

1 paper

NM_031438.4

p.M51ins10

c.152_153ins30

1 paper

NM_031438.4

p.M51_Y52insFs

c.153_154insAA

1 paper

NM_031438.4

p.A53S

c.157G>T

1 paper

NM_031438.4

p.G69ins10

c.206_207ins30

1 paper

NM_031438.4

p.G69V

c.206G>T

1 paper

NM_031438.4

p.G69_C70insFs

c.207_208insAA

1 paper

NM_031438.4

p.C70fs

c.208_209fs

1 paper

NM_031438.4

p.D71Y

c.211G>T