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.W841L

c.2522G>T

Surrounding Variants

1 paper

NM_001142864.4

p.R849H

c.2546G>A

1 paper

NM_001142864.4

p.R851W

c.2551C>T

1 paper

NM_001142864.4

p.S831L

c.2492C>T

1 paper

NM_001142864.4

p.V860M

c.2578G>A

1 paper

NM_001142864.4

p.V864I

c.2590G>A

1 paper

NM_001142864.4

p.C868*

c.2604T>A

1 paper

NM_001142864.4

p.V867_C868delFs

c.2601_2604del4

1 paper

NM_001142864.4

p.K869N

c.2607G>T

1 paper

NM_001142864.4

p.K869N

c.2607G>C

10 papers

NM_001142864.4

p.M870I

c.2610G>T

10 papers

NM_001142864.4

p.M870I

c.2610G>C

10 papers

NM_001142864.4

p.M870I

c.2610G>A