Varaico: Literature-Extracted Genetic Variants

Gene:OFD1
Variant:p.A79T

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
5 papers
NM_003611.3
p.A79T
c.235G>A
Surrounding Variants
1 paper
NM_003611.3
p.A79insFs
c.235dupG
1 paper
NM_003611.3
p.L77S
c.230T>C
4 papers
NM_003611.3
p.H81D
c.241C>G
5 papers
NM_003611.3
p.H81Q
c.243C>A
5 papers
NM_003611.3
p.H81Q
c.243C>G
3 papers
NM_003611.3
p.N75K
c.225C>A
3 papers
NM_003611.3
p.N75K
c.225C>G
3 papers
NM_003611.3
p.N75T
c.224A>C
1 paper
NM_003611.3
p.N75S
c.224A>G
2 papers
NM_003611.3
p.N75D
c.223A>G
4 papers
NM_003611.3
p.Q83*
c.247C>T
6 papers
NM_003611.3
p.S74F
c.221C>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."