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.N245N

c.735C>T

Surrounding Variants

1 paper

NM_004044.7

p.N245D

c.733A>G

1 paper

NM_004044.7

p.L244F

c.732G>C

1 paper

NM_004044.7

p.L244F

c.732G>T

1 paper

NM_004044.7

p.N239K

c.717C>A

1 paper

NM_004044.7

p.N239K

c.717C>G

1 paper

NM_004044.7

p.K254K

c.762G>A

1 paper

NM_004044.7

p.G233V

c.698G>T

1 paper

NM_004044.7

p.A262A

c.786T>A

1 paper

NM_004044.7

p.F265delFs

c.794delT

1 paper

NM_004044.7

p.F265fs

c.793_794fs

1 paper

NM_004044.7

p.K266Q

c.796A>C

1 paper

NM_004044.7

p.K266R

c.797A>G