Varaico: Literature-Extracted Genetic Variants

Gene:PRTFDC1
Variant:p.D25E

PRTFDC1

24 papers

Pfam Domains

Pribosyltranaa 43–203UCSCPhosphoribosyl transferase domain

Gene Aliases

HGNC Name

phosphoribosyl transferase domain containing 1

HGNC Alias Symbol

HHGP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020200.7
p.D25E
c.75C>G
Surrounding Variants
1 paper
NM_020200.7
p.D25E
c.75C>A
1 paper
NM_020200.7
p.P22L
c.65C>T
1 paper
NM_020200.7
p.I44insFs
c.131_132ins7
1 paper
NM_020200.7
p.V50L
c.148G>T
1 paper
NM_020200.7
p.V50L
c.148G>C
1 paper
NM_020200.7
p.V104A
c.311T>C
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