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.L168L

c.502T>C

Surrounding Variants

1 paper

NM_004044.7

p.R171K

c.512G>A

1 paper

NM_004044.7

p.R172C

c.514C>T

1 paper

NM_004044.7

p.L174S

c.521T>C

1 paper

NM_004044.7

p.A175D

c.524C>A

1 paper

NM_004044.7

p.T156A

c.466A>G

2 papers

NM_004044.7

p.V154A

c.461T>C

1 paper

NM_004044.7

p.V154M

c.460G>A

1 paper

NM_004044.7

p.Y151C

c.452A>G

1 paper

NM_004044.7

p.P148A

c.442C>G

1 paper

NM_004044.7

p.E147D

c.441A>T

1 paper

NM_004044.7

p.R141*

c.421C>T

2 papers

NM_004044.7

p.A136T

c.406G>A