Varaico: Literature-Extracted Genetic Variants

Gene:TOR1B
Variant:p.I274V

TOR1B

32 papers

RefSeq Summary

The protein encoded by this gene is an ATPase found primarily in the endoplasmic reticulum and nuclear envelope. This gene has a highly-similar neighboring gene, TOR1A, that encodes a protein that is ...

Pfam Domains

Torsinaa 51–176UCSCTorsin
TOR1A_Caa 279–336UCSCTorsin-1A, C-terminal domain

Gene Aliases

HGNC Name

torsin family 1 member B

HGNC Alias Symbols

DQ1; MGC4386

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_014506.3
p.I274V
c.820A>G
Surrounding Variants
1 paper
NM_014506.3
p.F273F
c.819T>C
1 paper
NM_014506.3
p.R206C
c.616C>T
1 paper
NM_014506.3
p.A189V
c.566C>T
2 papers
NM_014506.3
p.E178Q
c.532G>C
3 papers
NM_014506.3
p.Q155_D156Splc
c.465+49G>A
1 paper
NM_014506.3
p.P99_K100del1
c.296_298delCCA
1 paper
NM_014506.3
p.G35R
c.103G>A
1 paper
NM_014506.3
p.G35W
c.103G>T
1 paper
NM_014506.3
p.A33S
c.97G>T
1 paper
NM_014506.3
p.L7L
c.21C>T
1 paper
NM_014506.3
p.M1V
c.1A>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."