Varaico: Literature-Extracted Genetic Variants

Gene:FHIT
Variant:p.Y114F

FHIT

127 papers

RefSeq Summary

The protein encoded by this gene is a P1-P3-bis(5'-adenosyl) triphosphate hydrolase involved in purine metabolism. This gene encompasses the common fragile site FRA3B on chromosome 3, where carcinogen...

Pfam Domains

HITaa 9–105UCSCHIT domain

Gene Aliases

HGNC Name

fragile histidine triad diadenosine triphosphatase

HGNC Alias Symbols

FRA3B; AP3Aase

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_002012.4
p.Y114F
c.341A>T
Surrounding Variants
1 paper
NM_002012.4
p.Y114D
c.340T>G
1 paper
NM_002012.4
p.E116_L117Splc
c.348+1G>A
1 paper
NM_002012.4
p.R102S
c.306G>T
1 paper
NM_002012.4
p.R102S
c.306G>C
1 paper
NM_002012.4
p.P101S
c.301C>T
1 paper
NM_002012.4
p.L100R
c.299T>G
1 paper
NM_002012.4
p.V99F
c.295G>T
1 paper
NM_002012.4
p.V99I
c.295G>A
1 paper
NM_002012.4
p.H98H
c.294T>C
1 paper
NM_002012.4
p.H96delFs
c.288delG
1 paper
NM_002012.4
p.H96D
c.286C>G
10 papers
NM_002012.4
p.H96N
c.286C>A
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