Varaico: Literature-Extracted Genetic Variants

Gene:OFD1
Variant:p.N916insFs

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_001330209.2
p.N916insFs
c.2747_2748insT
Surrounding Variants
4 papers
NM_003611.3
p.N956delFs
c.2868delT
1 paper
NM_003611.3
p.P957fs
c.2869_2870fs
3 papers
NM_003611.3
p.P957fs
c.2869_2870fs
1 paper
NM_003611.3
p.P957L
c.2870C>T
2 papers
NM_003611.3
p.S954insFs
c.2862dupT
1 paper
NM_003611.3
p.L958*
c.2873T>A
1 paper
NM_003611.3
p.L958*
c.2873T>G
1 paper
NM_003611.3
p.Y961*
c.2883C>A
1 paper
NM_003611.3
p.Y961*
c.2883C>G
1 paper
NM_003611.3
p.S951delFs
c.2852delC
1 paper
NM_003611.3
p.K950R
c.2849A>G
3 papers
NM_003611.3
p.K950*
c.2848A>T
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