Varaico: Literature-Extracted Genetic Variants

Gene:OFD1
Variant:p.L127_V128Splc

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.L127_V128Splc
c.382-4A>G
Surrounding Variants
2 papers
NM_003611.3
p.L127_V128Splc
c.382-3C>G
2 papers
NM_003611.3
p.L127_V128Splc
c.382-2A>G
1 paper
NM_003611.3
p.V128_S129delFs
c.384_385delTT
1 paper
NM_003611.3
p.D132E
c.396T>A
1 paper
NM_003611.3
p.D132E
c.396T>G
7 papers
NM_003611.3
p.E134_N135delFs
c.400_403del4
4 papers
NM_003611.3
p.E134fs
c.400_401fs
1 paper
NM_003611.3
p.E134D
c.402A>C
1 paper
NM_003611.3
p.E134D
c.402A>T
2 papers
NM_003611.3
p.K137delFs
c.411delA
5 papers
NM_003611.3
p.G138S
c.412G>A
1 paper
NM_003611.3
p.L127_V128Splc
c.381+9G>A
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