Varaico: Literature-Extracted Genetic Variants

Gene:OFD1
Variant:p.L127_V128Splc

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.L127_V128Splc
c.381+9G>A
Surrounding Variants
1 paper
NM_003611.3
p.L127_V128Splc
c.381+2T>G
3 papers
NM_003611.3
p.Y124*
c.372C>A
3 papers
NM_003611.3
p.Y124*
c.372C>G
5 papers
NM_003611.3
p.T120A
c.358A>G
1 paper
NM_003611.3
p.P119_T120del1
c.357_359delTAC
4 papers
NM_003611.3
p.Q113*
c.337C>T
1 paper
NM_003611.3
p.Q109*
c.325C>T
1 paper
NM_003611.3
p.L127_V128Splc
c.382-4A>G
2 papers
NM_003611.3
p.L127_V128Splc
c.382-3C>G
2 papers
NM_003611.3
p.L127_V128Splc
c.382-2A>G
1 paper
NM_003611.3
p.F106_L111del6
c.316_332del18
2 papers
NM_003611.3
p.V105insFs
c.313dupG
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."