Varaico: Literature-Extracted Genetic Variants

Gene:OFD1
Variant:p.K280delFs

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
3 papers
NM_003611.3
p.K280delFs
c.839_840delAA
Surrounding Variants
4 papers
NM_003611.3
p.T279_E281delFs
c.837_841del5
1 paper
NM_001330210.2
p.E138K
c.412G>A
2 papers
NM_003611.3
p.E281_I282delFs
c.843_844delAA
1 paper
NM_003611.3
p.I282_Y283ins4
c.844_848ins12
2 papers
NM_003611.3
p.R286delFs
c.858delG
1 paper
NM_003611.3
p.L288fs
c.862_863fs
2 papers
NM_003611.3
p.K291_M293del0
c.872_877del6
3 papers
NM_003611.3
p.K291*
c.871A>T
1 paper
NM_003611.3
p.D292_M293insA
c.874_878ins3
3 papers
NM_003611.3
p.M293delFs
c.877_878delAT
2 papers
NM_003611.3
p.M293fs
c.877_878fs
3 papers
NM_003611.3
p.R299insFs
c.895_896insGA
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