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

15 papers

NM_001142864.4

p.P2510L

c.7529C>T

Surrounding Variants

2 papers

NM_001142864.4

p.R2508H

c.7523G>A

2 papers

NM_001142864.4

p.L2506F

c.7516C>T

2 papers

NM_001142864.4

p.T2517S

c.7549A>T

2 papers

NM_001142864.4

p.T2517S

c.7550C>G

1 paper

NM_001142864.4

p.T2517N

c.7550C>A

12 papers

NM_001142864.4

p.K2502R

c.7505A>G

2 papers

NM_001142864.4

p.Y2500Y

c.7500C>T

6 papers

NM_001142864.4

p.K2520E

c.7558A>G

1 paper

NM_001142864.4

p.E2498_L2499insFs

c.7493_7496dup4

1 paper

NM_001142864.4

p.E2498*

c.7492G>T

2 papers

NM_001142864.4

p.E2497ins1

c.7489_7490insCTG

14 papers

NM_001142864.4

p.L2493_L2495ins1

c.7479_7484dup6