Varaico: Literature-Extracted Genetic Variants

Gene:OFD1
Variant:p.S391delFs

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.S391delFs
c.1171delT
Surrounding Variants
1 paper
NM_003611.3
p.N390fs
c.1168_1169fs
1 paper
NM_003611.3
p.S391fs
c.1171_1172fs
2 papers
NM_003611.3
p.K393insFs
c.1178dupA
2 papers
NM_003611.3
p.K393delFs
c.1178delA
1 paper
NM_003611.3
p.N390_S391delFs
c.1168_1171del4
1 paper
NM_003611.3
p.K393fs
c.1177_1178fs
1 paper
NM_003611.3
p.K393M
c.1178A>T
1 paper
NM_003611.3
p.E395*
c.1183G>T
2 papers
NM_003611.3
p.E395delFs
c.1185delA
14 papers
NM_003611.3
p.Q398_S399delFs
c.1193_1196del4
2 papers
NM_003611.3
p.N397insFs
c.1190dupA
2 papers
NM_003611.3
p.N397fs
c.1189_1190fs
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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."