Varaico: Literature-Extracted Genetic Variants

Gene:PIEZO1

PIEZO1

516 papers

RefSeq Summary

The protein encoded by this gene is a mechanically-activated ion channel that links mechanical forces to biological signals. The encoded protein contains 36 transmembrane domains and functions as a ho...

Pfam Domains

Piezo_TM1-24aa 26–707UCSCPiezo TM1-24
Piezo_TM25-28aa 1136–1465UCSCPiezo TM25-28
THU_Piezo1aa 1684–1807UCSCPiezo1-like, transmembrane helical unit
Piezo_THU9_anchoraa 1958–2195UCSCPiezo, THU9 and anchor domain
Piezo_capaa 2232–2519UCSCPiezo non-specific cation channel, cap domain

Gene Aliases

HGNC Name

piezo type mechanosensitive ion channel component 1

HGNC Previous Symbol

FAM38A

Papers
RefSeq ID
Protein change
DNA change
1–12 of 932 variants
62 papers
NM_001142864.4
p.R2456H
c.7367G>A
37 papers
NM_001142864.4
p.E756del1
c.2266_2267delCTC
25 papers
NM_001142864.4
p.V598M
c.1792G>A
21 papers
NM_001142864.4
p.G782S
c.2344G>A
21 papers
NM_001142864.4
p.R2488Q
c.7463G>A
20 papers
NM_001142864.4
p.R808Q
c.2423G>A
20 papers
NM_001142864.4
p.M2225R
c.6674T>G
19 papers
NM_001142864.4
p.T2127M
c.6380C>T
18 papers
NM_001142864.4
p.F2458L
c.7372T>C
18 papers
NM_001142864.4
p.F2458L
c.7374C>A
17 papers
NM_001142864.4
p.L939M
c.2815C>A
17 papers
NM_001142864.4
p.F2458L
c.7374C>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."