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.G2108Splc

c.6324-1G>C

Surrounding Variants

11 papers

NM_001142864.4

p.R2110W

c.6328C>T

4 papers

NM_001142864.4

p.R2110Q

c.6329G>A

1 paper

NM_001142864.4

p.G2108Splc

c.6324-8G>C

1 paper

NM_001142864.4

p.E2117K

c.6349G>A

1 paper

NM_001142864.4

p.E2117A

c.6350A>C

1 paper

NM_001142864.4

p.E2117D

c.6351G>T

1 paper

NM_001142864.4

p.E2117D

c.6351G>C

1 paper

NM_001142864.4

p.W2126delFs

c.6377_6378delCC

19 papers

NM_001142864.4

p.T2127M

c.6380C>T

2 papers

NM_001142864.4

p.T2130T

c.6390G>A

1 paper

NM_001142864.4

p.L2131P

c.6392T>C

1 paper

NM_001142864.4

p.T2129_S2132del4

c.6385_6395del12