Varaico: Literature-Extracted Genetic Variants

Gene:OFD1
Variant:p.R299insFs

OFD1

370 papers

RefSeq Summary

This gene is located on the X chromosome and encodes a centrosomal protein. A knockout mouse model has been used to study the effect of mutations in this gene. The mouse gene is also located on the X ...

Pfam Domains

LisH_2aa 74–101UCSCLisH

Gene Aliases

HGNC Name

OFD1 centriole and centriolar satellite protein

HGNC Previous Symbol

RP23

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003611.3
p.R299insFs
c.896_897insGA
Surrounding Variants
3 papers
NM_003611.3
p.R299insFs
c.895_896insGA
1 paper
NM_003611.3
p.E300G
c.899A>G
1 paper
NM_003611.3
p.A301fs
c.901_902fs
1 paper
NM_003611.3
p.E302delFs
c.905_906delAG
1 paper
NM_003611.3
p.E302fs
c.904_905fs
1 paper
NM_003611.3
p.E302V
c.905A>T
1 paper
NM_003611.3
p.Q305delFs
c.914_915delAA
1 paper
NM_003611.3
p.Q305fs
c.913_914fs
2 papers
NM_003611.3
p.M293fs
c.877_878fs
2 papers
NM_003611.3
p.V307delFs
c.919delG
1 paper
NM_003611.3
p.D292_M293insA
c.874_878ins3
3 papers
NM_003611.3
p.M293delFs
c.877_878delAT
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