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

20 papers

NM_001142864.4

p.R808Q

c.2423G>A

Surrounding Variants

1 paper

NM_001142864.4

p.E811K

c.2431G>A

1 paper

NM_001142864.4

p.Q803H

c.2409G>T

1 paper

NM_001142864.4

p.Q803H

c.2409G>C

1 paper

NM_001142864.4

p.R801insFs

c.2401_2402insTT

1 paper

NM_001142864.4

p.R801_V802insA

c.2401_2405ins3

1 paper

NM_001142864.4

p.S800L

c.2399C>T

1 paper

NM_001142864.4

p.V798I

c.2392G>A

2 papers

NM_001142864.4

p.R787R

c.2361G>C

2 papers

NM_001142864.4

p.E829V

c.2486A>T

1 paper

NM_001142864.4

p.E829_V830Splc

c.2487+1G>T

1 paper

NM_001142864.4

p.E829_V830Splc

c.2487+1G>A

1 paper

NM_001142864.4

p.L783Q

c.2348T>A