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

4 papers

NM_001142864.4

p.E755*

c.2263G>T

Surrounding Variants

1 paper

NM_001142864.4

p.E754Q

c.2260G>C

1 paper

NM_001142864.4

p.E756_D757ins2

c.2268_2269ins6

1 paper

NM_001142864.4

p.D757delFs

c.2269delC

3 papers

NM_001142864.4

p.E756_D757ins0

c.2268_2270dupGGA

37 papers

NM_001142864.4

p.E756del1

c.2266_2267delCTC

4 papers

NM_001142864.4

p.E750Q

c.2248G>C

6 papers

NM_001142864.4

p.Q749del1

c.2245_2246delCTG

4 papers

NM_001142864.4

p.Q749E

c.2245C>G

1 paper

NM_001142864.4

p.H744Q

c.2232T>G

1 paper

NM_001142864.4

p.H744Q

c.2232T>A

1 paper

NM_001142864.4

p.A766T

c.2296G>A

1 paper

NM_001142864.4

p.T767P

c.2299A>C