Varaico: Literature-Extracted Genetic Variants

Gene:OFD1
Variant:p.A279_I280delFs

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.A279_I280delFs
c.837_838delAA
Surrounding Variants
1 paper
NM_003611.3
p.A419T
c.1255G>A
1 paper
NM_003611.3
p.I420delFs
c.1260delA
3 papers
NM_003611.3
p.Q423_N424delFs
c.1268_1272del5
1 paper
NM_001330210.2
p.T281_K282delFs
c.843_844delAA
1 paper
NM_003611.3
p.K422E
c.1264A>G
2 papers
NM_003611.3
p.Q416fs
c.1246_1247fs
1 paper
NM_003611.3
p.Q423fs
c.1267_1268fs
1 paper
NM_003611.3
p.Q416delFs
c.1246_1247delCA
1 paper
NM_003611.3
p.A415V
c.1244C>T
1 paper
NM_003611.3
p.Q416delFs
c.1246delC
1 paper
NM_003611.3
p.N424S
c.1271A>G
1 paper
NM_001330210.2
p.M286delFs
c.858delG
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