Varaico: Literature-Extracted Genetic Variants

Gene:OFD1
Variant:p.E933insFs

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
5 papers
NM_003611.3
p.E933insFs
c.2797dupG
Surrounding Variants
1 paper
NM_003611.3
p.K932fs
c.2794_2795fs
1 paper
NM_003611.3
p.E933fs
c.2797_2798fs
5 papers
NM_003611.3
p.E933*
c.2797G>T
4 papers
NM_003611.3
p.E933fs
c.2797_2798fs
1 paper
NM_003611.3
p.E935_M936insFs
c.2803_2806dup4
1 paper
NM_003611.3
p.K932delFs
c.2795delA
2 papers
NM_003611.3
p.I930fs
c.2788_2789fs
3 papers
NM_003611.3
p.I930fs
c.2788_2789fs
5 papers
NM_003611.3
p.I930_K931delFs
c.2789_2793del5
1 paper
NM_001330209.2
p.L886delFs
c.2656delC
2 papers
NM_003611.3
p.E939*
c.2815G>T
1 paper
NM_003611.3
p.E941K
c.2821G>A
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