Varaico: Literature-Extracted Genetic Variants

Gene:PIH1D1
Variant:p.R274G

PIH1D1

21 papers

Pfam Domains

PIH1aa 23–187UCSCPIH1 N-terminal domain
PIH1_CSaa 213–286UCSCPIH1 CS-like domain

Gene Aliases

HGNC Name

PIH1 domain containing 1

HGNC Previous Symbol

NOP17

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017916.3
p.R274G
c.820C>G
Surrounding Variants
1 paper
NM_017916.3
p.R276_K277delFs
c.828_831del4
1 paper
NM_017916.3
p.R243C
c.727C>T
1 paper
NM_017916.3
p.P287L
c.860C>T
3 papers
NM_017916.3
p.V224I
c.670G>A
1 paper
NM_017916.3
p.G204_E206delFs
c.612_616del5
1 paper
NM_017916.3
p.K166M
c.497A>T
1 paper
NM_017916.3
p.R98R
c.294C>G
1 paper
NM_017916.3
p.R98C
c.292C>T
1 paper
NM_017916.3
p.R23fs
c.67_68fs
1 paper
NM_017916.3
p.A2V
c.5C>T
1 paper
NM_017916.3
p.M1K
c.2T>A
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