Varaico: Literature-Extracted Genetic Variants

Gene:OFD1
Variant:p.R402C

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_003611.3
p.R402C
c.1204C>T
Surrounding Variants
1 paper
NM_003611.3
p.V403L
c.1207G>C
1 paper
NM_003611.3
p.V403L
c.1207G>T
1 paper
NM_003611.3
p.V400_V403del4
c.1198_1208del12
1 paper
NM_003611.3
p.E405D
c.1215A>C
1 paper
NM_003611.3
p.E405D
c.1215A>T
1 paper
NM_003611.3
p.L406delFs
c.1216_1217delCT
4 papers
NM_003611.3
p.Q398fs
c.1192_1193fs
1 paper
NM_003611.3
p.E407delFs
c.1219_1220delGA
2 papers
NM_003611.3
p.N397fs
c.1189_1190fs
2 papers
NM_003611.3
p.N397insFs
c.1190dupA
14 papers
NM_003611.3
p.Q398_S399delFs
c.1193_1196del4
1 paper
NM_003611.3
p.E395*
c.1183G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."