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

3 papers

NM_001142864.4

p.Q616_V617Splc

c.1848+31C>G

Surrounding Variants

1 paper

NM_001142864.4

p.L612V

c.1834C>G

2 papers

NM_001142864.4

p.V617F

c.1849G>T

8 papers

NM_001142864.4

p.M605I

c.1815G>T

7 papers

NM_001142864.4

p.M605I

c.1815G>C

7 papers

NM_001142864.4

p.M605I

c.1815G>A

1 paper

NM_001142864.4

p.M605insFs

c.1813dupA

2 papers

NM_001142864.4

p.R623L

c.1868G>T

2 papers

NM_001142864.4

p.M605V

c.1813A>G

1 paper

NM_001142864.4

p.L625_L626delFs

c.1875_1876delGC

2 papers

NM_001142864.4

p.L626delFs

c.1878delG

2 papers

NM_001142864.4

p.V599G

c.1796T>G

3 papers

NM_001142864.4

p.V599L

c.1795G>C