Varaico: Literature-Extracted Genetic Variants

PIEZO2

18p11.22-p11.21 (UCSC)OMIM PanelApp GTEx

214 papers

RefSeq Summary

The protein encoded by this gene contains more than thirty transmembrane domains and likely functions as part of mechanically-activated (MA) cation channels. These channels serve to connect mechanical...

Pfam Domains

Piezo_TM1-24aa 26–410UCSCPiezo TM1-24

Piezo_TM1-24aa 428–640UCSCPiezo TM1-24

Piezo_TM1-24aa 636–814UCSCPiezo TM1-24

Piezo_TM25-28aa 1291–1658UCSCPiezo TM25-28

THU_Piezo1aa 2032–2153UCSCPiezo1-like, transmembrane helical unit

Piezo_THU9_anchoraa 2300–2537UCSCPiezo, THU9 and anchor domain

Gene Aliases

HGNC Name

piezo type mechanosensitive ion channel component 2

HGNC Previous Symbols

FAM38B2; C18orf30; C18orf58; FAM38B

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

7 papers

NM_001378183.1

p.R462*

c.1384C>T

Surrounding Variants

1 paper

NM_001378183.1

p.E460Splc

c.1379-2A>G

1 paper

NM_001378183.1

p.E465fs

c.1393_1394fs

1 paper

NM_001378183.1

p.E465delFs

c.1395delT

1 paper

NM_001378183.1

p.F472fs

c.1414_1415fs

1 paper

NM_001378183.1

p.F472_E473delFs

c.1414_1418del5

2 papers

NM_001378183.1

p.E474K

c.1420G>A

1 paper

NM_001378183.1

p.R482fs

c.1444_1445fs

1 paper

NM_001378183.1

p.R482delFs

c.1444delT

2 papers

NM_001378183.1

p.M509_A510Splc

c.1528-1G>T

2 papers

NM_001378183.1

p.S512N

c.1535G>A

1 paper

NM_001378183.1

p.T514N

c.1541C>A

5 papers

NM_001378183.1

p.S517fs

c.1549_1550fs