Varaico: Literature-Extracted Genetic Variants

Gene:TPR
Variant:p.Q110_S111Splc

TPR

566 papers

RefSeq Summary

This gene encodes a large coiled-coil protein that forms intranuclear filaments attached to the inner surface of nuclear pore complexes (NPCs). The protein directly interacts with several components o...

Pfam Domains

Nucleoprot-TPRaa 171–252UCSCNucleoprotein TPR-like domain
TPRaa 471–569UCSCNucleoprotein TPR-like domain
TPR_MLP1_2aa 1038–1166UCSCTPR/MLP1/MLP2-like protein

Gene Aliases

HGNC Name

translocated promoter region, nuclear basket protein

HGNC Previous Name

translocated promoter region (to activated MET oncogene)

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_003292.3
p.Q110_S111Splc
c.331-2A>G
Surrounding Variants
5 papers
NM_003292.3
p.Q110_S111Splc
c.331-1G>A
1 paper
NM_003292.3
p.Q112delFs
c.335_336delTT
2 papers
NM_003292.3
p.T114I
c.341C>T
1 paper
NM_003292.3
p.Q110_S111Splc
c.331-15T>C
1 paper
NM_003292.3
p.R115K
c.344G>A
1 paper
NM_003292.3
p.Q110_S111Splc
c.331-20A>G
1 paper
NM_003292.3
p.E118K
c.352G>A
1 paper
NM_003292.3
p.E119Q
c.355G>C
1 paper
NM_003292.3
p.E119K
c.355G>A
1 paper
NM_003292.3
p.E119V
c.356A>T
1 paper
NM_003292.3
p.E119A
c.356A>C
1 paper
NM_003292.3
p.L120delFs
c.360delT
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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."