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

2 papers

NM_001142864.4

p.S2226S

c.6678C>T

Surrounding Variants

5 papers

NM_001142864.4

p.A2227V

c.6680C>T

1 paper

NM_001142864.4

p.A2227G

c.6680C>G

20 papers

NM_001142864.4

p.M2225R

c.6674T>G

5 papers

NM_001142864.4

p.Q2228*

c.6682C>T

1 paper

NM_001142864.4

p.Q2229*

c.6685C>T

1 paper

NM_001142864.4

p.I2233I

c.6699C>T

1 paper

NM_001142864.4

p.P2234insFs

c.6702dupC

1 paper

NM_001142864.4

p.F2235fs

c.6703_6704fs

4 papers

NM_001142864.4

p.R2245Q

c.6734G>A

3 papers

NM_001142864.4

p.P2251S

c.6751C>T

1 paper

NM_001142864.4

p.E2220_P2221Splc

c.6660+57T>C

3 papers

NM_001142864.4

p.G2217G

c.6651C>A