Varaico: Literature-Extracted Genetic Variants

Gene:OFD1

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
1–12 of 650 variants
26 papers
NM_003611.3
p.L312Splc
c.935+706A>G
15 papers
NM_003611.3
p.A234_K235insFs
c.702_703insA
14 papers
NM_003611.3
p.Q398_S399delFs
c.1193_1196del4
8 papers
NM_003611.3
p.K237delFs
c.710delA
7 papers
NM_003611.3
p.V93F
c.277G>T
7 papers
NM_003611.3
p.E134_N135delFs
c.400_403del4
7 papers
NM_003611.3
p.S435R
c.1303A>C
7 papers
NM_003611.3
p.E923delFs
c.2767delG
6 papers
NM_003611.3
p.S74F
c.221C>T
6 papers
NM_003611.3
p.Y87C
c.260A>G
5 papers
NM_003611.3
p.R41*
c.121C>T
5 papers
NM_003611.3
p.A79T
c.235G>A
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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."