Varaico: Literature-Extracted Genetic Variants

Gene:OFD1
Variant:p.L102delFs

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_001330210.2
p.L102delFs
c.306delA
Surrounding Variants
1 paper
NM_001330210.2
p.M104delFs
c.312delG
1 paper
NM_003611.3
p.Q246*
c.736C>T
1 paper
NM_003611.3
p.Y238fs
c.712_713fs
5 papers
NM_003611.3
p.Y238fs
c.712_713fs
4 papers
NM_003611.3
p.Y238delFs
c.712delT
1 paper
NM_001330210.2
p.K97R
c.290A>G
1 paper
NM_003611.3
p.K237fs
c.709_710fs
3 papers
NM_003611.3
p.K237fs
c.709_710fs
1 paper
NM_003611.3
p.K236E
c.706A>G
2 papers
NM_003611.3
p.K236_K240delFs
c.707_719del13
15 papers
NM_003611.3
p.A234_K235insFs
c.702_703insA
8 papers
NM_003611.3
p.K237delFs
c.710delA
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