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.E2497ins1

c.7489_7490insCTG

Surrounding Variants

14 papers

NM_001142864.4

p.L2493_L2495ins1

c.7479_7484dup6

2 papers

NM_001142864.4

p.L2495_E2496del0

c.7483_7488del6

1 paper

NM_001142864.4

p.E2496D

c.7488G>T

3 papers

NM_001142864.4

p.E2496_E2497ins1

c.7488_7489insCTG

2 papers

NM_001142864.4

p.E2496_E2497insFs

c.7488_7489ins4

2 papers

NM_001142864.4

p.E2496insFs

c.7487_7488ins4

1 paper

NM_001142864.4

p.E2496_E2497ins2

c.7488_7489ins6

1 paper

NM_001142864.4

p.E2496D

c.7488G>C

1 paper

NM_001142864.4

p.E2498*

c.7492G>T

1 paper

NM_001142864.4

p.E2498_L2499insFs

c.7493_7496dup4

2 papers

NM_001142864.4

p.E2494V

c.7481A>T

1 paper

NM_001142864.4

p.L2493R

c.7478T>G