Varaico: Literature-Extracted Genetic Variants

Gene:OFD1
Variant:p.R263W

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.R263W
c.787C>T
Surrounding Variants
2 papers
NM_003611.3
p.E264insFs
c.790dupG
1 paper
NM_003611.3
p.K265delFs
c.793_794delAA
1 paper
NM_003611.3
p.K265fs
c.793_794fs
2 papers
NM_003611.3
p.V261I
c.781G>A
1 paper
NM_003611.3
p.S266N
c.797G>A
1 paper
NM_003611.3
p.S257A
c.769T>G
1 paper
NM_003611.3
p.E269A
c.806A>C
1 paper
NM_003611.3
p.E269V
c.806A>T
1 paper
NM_003611.3
p.I271fs
c.811_812fs
1 paper
NM_003611.3
p.H272R
c.815A>G
1 paper
NM_003611.3
p.Q275_E276del2
c.823_827del6
2 papers
NM_003611.3
p.Q275*
c.823C>T
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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."