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

1 paper

NM_001142864.4

p.T556delFs

c.1668delT

Surrounding Variants

6 papers

NM_001142864.4

p.E557Splc

c.1669+1G>A

1 paper

NM_001142864.4

p.E550G

c.1649A>G

1 paper

NM_001142864.4

p.T549M

c.1646C>T

1 paper

NM_001142864.4

p.P545P

c.1635A>G

1 paper

NM_001142864.4

p.E543delFs

c.1628_1629delCT

1 paper

NM_001142864.4

p.E543E

c.1629G>A

1 paper

NM_001142864.4

p.A542T

c.1624G>A

3 papers

NM_001142864.4

p.K537N

c.1611G>T

3 papers

NM_001142864.4

p.K537N

c.1611G>C

1 paper

NM_001142864.4

p.Q532E

c.1594C>G

3 papers

NM_001142864.4

p.R531C

c.1591C>T

1 paper

NM_001142864.4

p.E557fs

c.1669_1670fs