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.D87E

c.261C>A

Surrounding Variants

1 paper

NM_004044.7

p.D87E

c.261C>G

1 paper

NM_004044.7

p.I96delFs

c.287_288delTA

1 paper

NM_004044.7

p.I96fs

c.286_287fs

1 paper

NM_004044.7

p.R79C

c.235C>T

1 paper

NM_004044.7

p.R97G

c.289A>G

1 paper

NM_004044.7

p.I76I

c.228C>A

1 paper

NM_004044.7

p.I76I

c.228C>T

1 paper

NM_004044.7

p.R97Splc

c.290+28A>G

2 papers

NM_004044.7

p.G75Splc

c.223+1G>A

1 paper

NM_004044.7

p.L68S

c.203T>C

2 papers

NM_004044.7

p.T67I

c.200C>T

1 paper

NM_004044.7

p.R64C

c.190C>T