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.L2216V

c.6646C>G

Surrounding Variants

1 paper

NM_001142864.4

p.K2215M

c.6644A>T

3 papers

NM_001142864.4

p.L2214L

c.6642G>C

3 papers

NM_001142864.4

p.G2217G

c.6651C>A

1 paper

NM_001142864.4

p.D2209N

c.6625G>A

1 paper

NM_001142864.4

p.I2208V

c.6622A>G

1 paper

NM_001142864.4

p.Q2206*

c.6616C>T

5 papers

NM_001142864.4

p.V2201F

c.6601G>T

1 paper

NM_001142864.4

p.R2198C

c.6592C>T

4 papers

NM_001142864.4

p.S2195L

c.6584C>T

2 papers

NM_001142864.4

p.S2195W

c.6584C>G

1 paper

NM_001142864.4

p.E2220_P2221Splc

c.6660+57T>C

5 papers

NM_001142864.4

p.L2192I

c.6574C>A