Varaico: Literature-Extracted Genetic Variants

Gene:OTOP1
Variant:p.L61P

OTOP1

76 papers

RefSeq Summary

This gene encodes a transmembrane protein which belongs to the otopetrin domain protein family and is required for the formation of otoconia and otoliths, calcium carbonate biominerals within the inne...

Pfam Domains

Otopetrinaa 132–238UCSCOtopetrin
Otopetrinaa 239–461UCSCOtopetrin
Otopetrinaa 528–599UCSCOtopetrin

Gene Aliases

HGNC Name

otopetrin 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_177998.3
p.L61P
c.182T>C
Surrounding Variants
1 paper
NM_177998.3
p.A58A
c.174C>T
3 papers
NM_177998.3
p.K56K
c.168A>G
8 papers
NM_177998.3
p.K56R
c.167A>G
1 paper
NM_177998.3
p.Q55R
c.164A>G
1 paper
NM_177998.3
p.V53I
c.157G>A
1 paper
NM_177998.3
p.S52N
c.155G>A
1 paper
NM_177998.3
p.V49M
c.145G>A
1 paper
NM_177998.3
p.R46R
c.136C>A
1 paper
NM_177998.3
p.L74del1
c.220_221delCAG
1 paper
NM_177998.3
p.S38C
c.113C>G
1 paper
NM_177998.3
p.A35_P36del1
c.104_106delGGG
1 paper
NM_177998.3
p.S33S
c.99C>G
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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."