Varaico: Literature-Extracted Genetic Variants

Gene:OFD1
Variant:p.L100insFs

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.L100insFs
c.299dupT
Surrounding Variants
2 papers
NM_003611.3
p.G99V
c.296G>T
5 papers
NM_003611.3
p.E97G
c.290A>G
4 papers
NM_003611.3
p.K102delFs
c.306delA
1 paper
NM_003611.3
p.A101_K102insFs
c.303_304insT
1 paper
NM_003611.3
p.E97K
c.289G>A
1 paper
NM_003611.3
p.S98insFs
c.292_293insA
1 paper
NM_003611.3
p.E97*
c.289G>T
1 paper
NM_003611.3
p.S98_K104delFs
c.294_312del19
1 paper
NM_003611.3
p.E103*
c.307G>T
1 paper
NM_003611.3
p.F94_F95insFs
c.282_283ins4
4 papers
NM_003611.3
p.K104delFs
c.312delG
1 paper
NM_003611.3
p.V93A
c.278T>C
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