Varaico: Literature-Extracted Genetic Variants

Gene:OFD1
Variant:p.E442fs

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.E442fs
c.1324_1325fs
Surrounding Variants
3 papers
NM_003611.3
p.K441_E442delFs
c.1323_1326del4
1 paper
NM_003611.3
p.K444delFs
c.1332delA
2 papers
NM_003611.3
p.K441_E442delFs
c.1322_1326del5
1 paper
NM_003611.3
p.K444fs
c.1330_1331fs
2 papers
NM_003611.3
p.L440delFs
c.1319delT
2 papers
NM_003611.3
p.L440delFs
c.1318delC
1 paper
NM_001330210.2
p.L299insFs
c.896_897insGA
1 paper
NM_001330210.2
p.L299insFs
c.895_896insGA
2 papers
NM_003611.3
p.L445delFs
c.1334_1335delTG
1 paper
NM_003611.3
p.Y437F
c.1310A>T
1 paper
NM_001330209.2
p.Y397insFs
c.1190dupA
1 paper
NM_001330210.2
p.L307H
c.920T>A
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