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.K177_A178Splc

c.532-12C>T

Surrounding Variants

1 paper

NM_004044.7

p.K177_A178Splc

c.532-30C>T

6 papers

NM_004044.7

p.D191E

c.573T>A

6 papers

NM_004044.7

p.D191E

c.573T>G

2 papers

NM_004044.7

p.K199E

c.595A>G

1 paper

NM_004044.7

p.S202P

c.604T>C

1 paper

NM_004044.7

p.S202F

c.605C>T

1 paper

NM_004044.7

p.Q203*

c.607C>T

1 paper

NM_004044.7

p.L206W

c.617T>G

1 paper

NM_004044.7

p.M210T

c.629T>C

1 paper

NM_004044.7

p.Q214H

c.642G>C

1 paper

NM_004044.7

p.Q214H

c.642G>T

1 paper

NM_004044.7

p.A217S

c.649G>T