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

1–12 of 208 variants

86 papers

NM_004044.7

p.T116S

c.347C>G

27 papers

NM_004044.7

p.T116S

c.346A>T

15 papers

NM_004044.7

p.K426R

c.1277A>G

6 papers

NM_004044.7

p.D191E

c.573T>A

6 papers

NM_004044.7

p.D191E

c.573T>G

4 papers

NM_004044.7

p.D539E

c.1617T>A

4 papers

NM_004044.7

p.D539E

c.1617T>G

3 papers

NM_004044.7

p.D50V

c.149A>T

3 papers

NM_004044.7

p.G272Splc

c.815-102T>C

3 papers

NM_004044.7

p.L457F

c.1369C>T

3 papers

NM_004044.7

p.P471S

c.1411C>T

3 papers

NM_004044.7

p.N489S

c.1466A>G