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

3 papers

NM_004044.7

p.N489S

c.1466A>G

Surrounding Variants

1 paper

NM_004044.7

p.E486Q

c.1456G>C

1 paper

NM_004044.7

p.V495M

c.1483G>A

2 papers

NM_004044.7

p.G481G

c.1443A>G

2 papers

NM_004044.7

p.T498T

c.1494C>G

2 papers

NM_004044.7

p.G500S

c.1498G>A

3 papers

NM_004044.7

p.G500D

c.1499G>A

1 paper

NM_004044.7

p.G500G

c.1500C>T

1 paper

NM_004044.7

p.E501K

c.1501G>A

1 paper

NM_004044.7

p.E501_D502Splc

c.1503+1G>A

3 papers

NM_004044.7

p.P471S

c.1411C>T

2 papers

NM_004044.7

p.H470Q

c.1410T>A

2 papers

NM_004044.7

p.H470Q

c.1410T>G