Varaico: Literature-Extracted Genetic Variants

Gene:OFD1
Variant:p.S92delFs

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.S92delFs
c.275_276delCT
Surrounding Variants
3 papers
NM_003611.3
p.S92P
c.274T>C
3 papers
NM_003611.3
p.S92fs
c.274_275fs
7 papers
NM_003611.3
p.V93F
c.277G>T
1 paper
NM_003611.3
p.V93A
c.278T>C
1 paper
NM_003611.3
p.Y89H
c.265T>C
1 paper
NM_003611.3
p.F94_F95insFs
c.282_283ins4
6 papers
NM_003611.3
p.Y87C
c.260A>G
1 paper
NM_003611.3
p.E97K
c.289G>A
1 paper
NM_003611.3
p.G86A
c.257G>C
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
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