Varaico: Literature-Extracted Genetic Variants

Gene:OFD1
Variant:p.K37_T38Splc

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.K37_T38Splc
c.112-1G>A
Surrounding Variants
4 papers
NM_003611.3
p.Q39*
c.115C>T
3 papers
NM_003611.3
p.L40L
c.120T>A
5 papers
NM_003611.3
p.R41*
c.121C>T
1 paper
NM_003611.3
p.R41Q
c.122G>A
1 paper
NM_003611.3
p.Q43*
c.127C>T
1 paper
NM_003611.3
p.H46_E47delFs
c.137_140del4
2 papers
NM_003611.3
p.H50insFs
c.148_149insG
1 paper
NM_003611.3
p.H50Y
c.148C>T
2 papers
NM_003611.3
p.H50fs
c.148_149fs
4 papers
NM_003611.3
p.H50R
c.149A>G
1 paper
NM_003611.3
p.P51T
c.151C>A
1 paper
NM_003611.3
p.V52I
c.154G>A
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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."