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

2 papers

NM_004044.7

p.I124M

c.372T>G

Surrounding Variants

1 paper

NM_004044.7

p.A120V

c.359C>T

86 papers

NM_004044.7

p.T116S

c.347C>G

27 papers

NM_004044.7

p.T116S

c.346A>T

1 paper

NM_004044.7

p.K108N

c.324G>C

1 paper

NM_004044.7

p.K108N

c.324G>T

1 paper

NM_004044.7

p.R97Splc

c.291-1G>C

1 paper

NM_004044.7

p.G127Splc

c.380-56C>T

1 paper

NM_004044.7

p.G127Splc

c.380-19A>C

1 paper

NM_004044.7

p.T130_L131insG

c.388_392ins3

2 papers

NM_004044.7

p.L131_L132insA

c.391_395ins3

2 papers

NM_004044.7

p.A136T

c.406G>A

1 paper

NM_004044.7

p.R141*

c.421C>T