Varaico: Literature-Extracted Genetic Variants

Gene:OFD1
Variant:p.M942R

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.M942R
c.2825T>G
Surrounding Variants
1 paper
NM_003611.3
p.E941K
c.2821G>A
2 papers
NM_003611.3
p.E939*
c.2815G>T
1 paper
NM_003611.3
p.I947_K948insG
c.2839_2843ins3
4 papers
NM_003611.3
p.K948delFs
c.2843_2844delAA
5 papers
NM_003611.3
p.I947_D949delFs
c.2841_2847del7
2 papers
NM_003611.3
p.K948fs
c.2842_2843fs
1 paper
NM_003611.3
p.K948*
c.2842A>T
4 papers
NM_003611.3
p.K948fs
c.2842_2843fs
3 papers
NM_003611.3
p.K950*
c.2848A>T
1 paper
NM_003611.3
p.K950R
c.2849A>G
1 paper
NM_003611.3
p.E935_M936insFs
c.2803_2806dup4
1 paper
NM_003611.3
p.S951delFs
c.2852delC
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."