Varaico: Literature-Extracted Genetic Variants

Gene:OFD1
Variant:p.S435R

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
4 papers
NM_003611.3
p.S435R
c.1305T>A
Surrounding Variants
4 papers
NM_003611.3
p.S435R
c.1305T>G
1 paper
NM_003611.3
p.S435N
c.1304G>A
7 papers
NM_003611.3
p.S435R
c.1303A>C
1 paper
NM_003611.3
p.S435C
c.1303A>T
1 paper
NM_001330209.2
p.Y397insFs
c.1190dupA
1 paper
NM_003611.3
p.Y437F
c.1310A>T
1 paper
NM_001330209.2
p.E393insFs
c.1178dupA
1 paper
NM_001330209.2
p.E393delFs
c.1178delA
1 paper
NM_001330210.2
p.L299insFs
c.895_896insGA
1 paper
NM_003611.3
p.K432E
c.1294A>G
1 paper
NM_001330210.2
p.L299insFs
c.896_897insGA
2 papers
NM_003611.3
p.L440delFs
c.1318delC
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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."