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

17 papers

NM_001142864.4

p.F2458L

c.7374C>G

Surrounding Variants

18 papers

NM_001142864.4

p.F2458L

c.7374C>A

18 papers

NM_001142864.4

p.F2458L

c.7372T>C

1 paper

NM_001142864.4

p.G2457*

c.7369G>T

1 paper

NM_001142864.4

p.G2457R

c.7369G>C

1 paper

NM_001142864.4

p.G2457R

c.7369G>A

1 paper

NM_001142864.4

p.S2460S

c.7380C>T

62 papers

NM_001142864.4

p.R2456H

c.7367G>A

4 papers

NM_001142864.4

p.E2461K

c.7381G>A

11 papers

NM_001142864.4

p.R2456C

c.7366C>T

3 papers

NM_001142864.4

p.F2454F

c.7362C>T

6 papers

NM_001142864.4

p.H2464P

c.7391A>C

1 paper

NM_001142864.4

p.L2449_V2450delFs

c.7345_7348del4