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.D710_M711delFs

c.2129_2132del4

Surrounding Variants

3 papers

NM_001142864.4

p.M711K

c.2132T>A

1 paper

NM_001142864.4

p.D710D

c.2130C>T

1 paper

NM_001142864.4

p.D710N

c.2128G>A

1 paper

NM_001142864.4

p.P717insFs

c.2150_2151insTA

10 papers

NM_001142864.4

p.G718S

c.2152G>A

2 papers

NM_001142864.4

p.R720H

c.2159G>A

4 papers

NM_001142864.4

p.H702Y

c.2104C>T

1 paper

NM_001142864.4

p.R723H

c.2168G>A

1 paper

NM_001142864.4

p.R723_W724delFs

c.2169_2170delAG

1 paper

NM_001142864.4

p.L696L

c.2086C>T

1 paper

NM_001142864.4

p.C694F

c.2081G>T

7 papers

NM_001142864.4

p.F681S

c.2042T>C