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

1 paper

NM_001378183.1

p.V2304I

c.6910G>A

Surrounding Variants

2 papers

NM_001378183.1

p.V2299M

c.6895G>A

1 paper

NM_001378183.1

p.I2316V

c.6946A>G

5 papers

NM_022068.4

p.T2221I

c.6662C>T

6 papers

NM_022068.4

p.S2223L

c.6668C>T

1 paper

NM_001378183.1

p.V2348M

c.7042G>A

1 paper

NM_001378183.1

p.F2354_G2355del1

c.7061_7063delCAA

1 paper

NM_001378183.1

p.F2354_G2355del2

c.7060_7064del6

1 paper

NM_001378183.1

p.T2356I

c.7067C>T

1 paper

NM_001378183.1

p.R2361*

c.7081C>T

1 paper

NM_001378183.1

p.V2377A

c.7130T>C

1 paper

NM_001378183.1

p.I2390insFs

c.7169_7170ins4

1 paper

NM_001378183.1

p.P2392S

c.7174C>T