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.F2485L

c.7455C>G

Surrounding Variants

1 paper

NM_001142864.4

p.F2485L

c.7455C>A

1 paper

NM_001142864.4

p.F2485L

c.7453T>C

21 papers

NM_001142864.4

p.R2488Q

c.7463G>A

4 papers

NM_001142864.4

p.E2489D

c.7467G>T

4 papers

NM_001142864.4

p.E2489D

c.7467G>C

1 paper

NM_001142864.4

p.C2481*

c.7443C>A

6 papers

NM_001142864.4

p.R2491W

c.7471C>T

1 paper

NM_001142864.4

p.K2479E

c.7435A>G

1 paper

NM_001142864.4

p.K2479Q

c.7435A>C

1 paper

NM_001142864.4

p.L2493R

c.7478T>G

2 papers

NM_001142864.4

p.E2494V

c.7481A>T

2 papers

NM_001142864.4

p.R2476C

c.7426C>T