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.V548I

c.1642G>A

Surrounding Variants

1 paper

NM_004044.7

p.D546A

c.1637A>C

1 paper

NM_004044.7

p.D546Y

c.1636G>T

1 paper

NM_004044.7

p.R550K

c.1649G>A

1 paper

NM_004044.7

p.K552*

c.1654A>T

4 papers

NM_004044.7

p.D539E

c.1617T>A

4 papers

NM_004044.7

p.D539E

c.1617T>G

1 paper

NM_004044.7

p.I536V

c.1606A>G

1 paper

NM_004044.7

p.V534I

c.1600G>A

1 paper

NM_004044.7

p.K524R

c.1571A>G

1 paper

NM_004044.7

p.E523V

c.1568A>T

1 paper

NM_004044.7

p.E523delFs

c.1569delG

1 paper

NM_004044.7

p.E523fs

c.1567_1568fs