Varaico: Literature-Extracted Genetic Variants

Gene:OFD1
Variant:p.N323delFs

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
2 papers
NM_001330210.2
p.N323delFs
c.967delA
Surrounding Variants
1 paper
NM_003611.3
p.E459V
c.1376A>T
1 paper
NM_001330210.2
p.Q317H
c.951A>C
1 paper
NM_001330210.2
p.Q317H
c.951A>T
1 paper
NM_001330210.2
p.Q317R
c.950A>G
1 paper
NM_003611.3
p.Q456E
c.1366C>G
4 papers
NM_003611.3
p.N470delFs
c.1409delA
1 paper
NM_003611.3
p.K455Q
c.1363A>C
1 paper
NM_003611.3
p.K455fs
c.1363_1364fs
1 paper
NM_003611.3
p.K455_Q456delFs
c.1363_1366del4
1 paper
NM_003611.3
p.N470I
c.1409A>T
1 paper
NM_003611.3
p.R471Splc
c.1411+1G>A
1 paper
NM_003611.3
p.R471P
c.1412G>C
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