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.P558P

c.1674C>T

Surrounding Variants

1 paper

NM_001142864.4

p.E557fs

c.1669_1670fs

1 paper

NM_001142864.4

p.R560W

c.1678C>T

1 paper

NM_001142864.4

p.Q562*

c.1684C>T

1 paper

NM_001142864.4

p.Q562L

c.1685A>T

1 paper

NM_001142864.4

p.T563M

c.1688C>T

1 paper

NM_001142864.4

p.G569E

c.1706G>A

1 paper

NM_001142864.4

p.A577delFs

c.1731delG

6 papers

NM_001142864.4

p.E557Splc

c.1669+1G>A

1 paper

NM_001142864.4

p.T556delFs

c.1668delT

1 paper

NM_001142864.4

p.E550G

c.1649A>G

1 paper

NM_001142864.4

p.T549M

c.1646C>T

7 papers

NM_001142864.4

p.V598L

c.1792G>T