Varaico: Literature-Extracted Genetic Variants

ATIC

251 papers

RefSeq Summary

This gene encodes a bifunctional protein that catalyzes the last two steps of the de novo purine biosynthetic pathway. The N-terminal domain has phosphoribosylaminoimidazolecarboxamide formyltransfera...

Pfam Domains

MGSaa 16–130UCSCMGS-like domain

AICARFT_IMPCHasaa 135–461UCSCAICARFT/IMPCHase bienzyme

Gene Aliases

HGNC Name

5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase

HGNC Alias Symbols

PURH; AICARFT; IMPCHASE

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004044.7

p.G272Splc

c.815-1G>A

Surrounding Variants

1 paper

NM_004044.7

p.D282Y

c.844G>T

1 paper

NM_004044.7

p.D282G

c.845A>G

1 paper

NM_004044.7

p.M288V

c.862A>G

1 paper

NM_004044.7

p.D291Y

c.871G>T

1 paper

NM_004044.7

p.A301V

c.902C>T

3 papers

NM_004044.7

p.G272Splc

c.815-102T>C

1 paper

NM_004044.7

p.R307T

c.920G>C

1 paper

NM_004044.7

p.G272Splc

c.815-294G>T

1 paper

NM_004044.7

p.G272insFs

c.814_815insA

1 paper

NM_004044.7

p.P270A

c.808C>G

1 paper

NM_004044.7

p.H267N

c.799C>A

1 paper

NM_004044.7

p.K266R

c.797A>G