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.D669H

c.2005G>C

Surrounding Variants

11 papers

NM_001142864.4

p.D669Y

c.2005G>T

1 paper

NM_001142864.4

p.L670Q

c.2009T>A

2 papers

NM_001142864.4

p.V677V

c.2031G>A

7 papers

NM_001142864.4

p.E679*

c.2035G>T

1 paper

NM_001142864.4

p.E679V

c.2036A>T

7 papers

NM_001142864.4

p.F681S

c.2042T>C

1 paper

NM_001142864.4

p.C694F

c.2081G>T

1 paper

NM_001142864.4

p.L696L

c.2086C>T

4 papers

NM_001142864.4

p.H702Y

c.2104C>T

1 paper

NM_001142864.4

p.T663_Q666delFs

c.1988_1997del10

1 paper

NM_001142864.4

p.Q666delFs

c.1996delG

1 paper

NM_001142864.4

p.D710N

c.2128G>A