Varaico: Literature-Extracted Genetic Variants

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

Selected Variant

17 papers

NM_001142864.4

p.L939M

c.2815C>A

Surrounding Variants

1 paper

NM_001142864.4

p.V935_L939delFs

c.2805_2815del11

1 paper

NM_001142864.4

p.L939ins0

c.2815_2817dupCTG

1 paper

NM_001142864.4

p.F941I

c.2821T>A

1 paper

NM_001142864.4

p.E942K

c.2824G>A

1 paper

NM_001142864.4

p.Y946*

c.2838C>G

1 paper

NM_001142864.4

p.Y946*

c.2838C>A

1 paper

NM_001142864.4

p.H951D

c.2851C>G

1 paper

NM_001142864.4

p.Y952insFs

c.2854dupT

6 papers

NM_001142864.4

p.R953H

c.2858G>A

1 paper

NM_001142864.4

p.H956H

c.2868C>T

1 paper

NM_001142864.4

p.Q957H

c.2871G>T

1 paper

NM_001142864.4

p.Q957H

c.2871G>C