Varaico: Literature-Extracted Genetic Variants

Gene:OFD1
Variant:p.Y87C

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
6 papers
NM_003611.3
p.Y87C
c.260A>G
Surrounding Variants
1 paper
NM_003611.3
p.G86A
c.257G>C
1 paper
NM_003611.3
p.Y89H
c.265T>C
4 papers
NM_003611.3
p.Q83*
c.247C>T
3 papers
NM_003611.3
p.S92delFs
c.275_276delCT
3 papers
NM_003611.3
p.S92P
c.274T>C
3 papers
NM_003611.3
p.S92fs
c.274_275fs
5 papers
NM_003611.3
p.H81Q
c.243C>A
5 papers
NM_003611.3
p.H81Q
c.243C>G
7 papers
NM_003611.3
p.V93F
c.277G>T
1 paper
NM_003611.3
p.V93A
c.278T>C
4 papers
NM_003611.3
p.H81D
c.241C>G
1 paper
NM_003611.3
p.F94_F95insFs
c.282_283ins4
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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."