Varaico: Literature-Extracted Genetic Variants

Gene:OTOR
Variant:p.Q91P

OTOR

28 papers

RefSeq Summary

This gene encodes a member of the melanoma-inhibiting activity gene family. The encoded protein is secreted via the Golgi apparatus and may function in cartilage development and maintenance. A frequen...

Pfam Domains

SH3_2aa 44–108UCSCVariant SH3 domain

Gene Aliases

HGNC Name

otoraplin

HGNC Alias Symbols

MIAL; MIAL1; FDP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020157.4
p.Q91P
c.272A>C
Surrounding Variants
1 paper
NM_020157.4
p.L104F
c.312G>C
1 paper
NM_020157.4
p.L104F
c.312G>T
1 paper
NM_020157.4
p.K106R
c.317A>G
1 paper
NM_020157.4
p.E113*
c.337G>T
1 paper
NM_020157.4
p.P119R
c.356C>G
3 papers
NM_020157.4
p.E75*
c.223G>T
1 paper
NM_020157.4
p.S70*
c.209C>A
1 paper
NM_020157.4
p.S70*
c.209C>G
1 paper
NM_020157.4
p.D54N
c.160G>A
1 paper
NM_020157.4
p.S42C
c.125C>G
1 paper
NM_020157.4
p.C127*
c.381C>A
1 paper
NM_020157.4
p.C37*
c.111T>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."