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.V420I

c.1258G>A

Surrounding Variants

1 paper

NM_004044.7

p.D417V

c.1250A>T

1 paper

NM_004044.7

p.R416*

c.1246C>T

15 papers

NM_004044.7

p.K426R

c.1277A>G

1 paper

NM_004044.7

p.E412K

c.1234G>A

1 paper

NM_004044.7

p.Q429P

c.1286A>C

1 paper

NM_004044.7

p.Q440H

c.1320G>C

1 paper

NM_004044.7

p.Q440H

c.1320G>T

1 paper

NM_004044.7

p.Q440_V441Splc

c.1320+1G>A

1 paper

NM_004044.7

p.Q440_V441Splc

c.1321-2A>G

1 paper

NM_004044.7

p.G443D

c.1328G>A

1 paper

NM_004044.7

p.A446V

c.1337C>T

1 paper

NM_004044.7

p.Q448H

c.1344G>C