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

6 papers

NM_001378183.1

p.S2686N

c.8057G>A

Surrounding Variants

1 paper

NM_001378183.1

p.S2690*

c.8069C>G

1 paper

NM_001378183.1

p.S2690*

c.8069C>A

1 paper

NM_001378183.1

p.S2654R

c.7962T>A

1 paper

NM_001378183.1

p.L2653insFs

c.7958dupT

1 paper

NM_022068.4

p.R2538Splc

c.7613+1G>A

2 papers

NM_001378183.1

p.N2638fs

c.7912_7913fs

1 paper

NM_001378183.1

p.P2637delFs

c.7911delG

1 paper

NM_022068.4

p.V2581Splc

c.7743-8A>G

1 paper

NM_001378183.1

p.I2622S

c.7865T>G

1 paper

NM_001378183.1

p.E2613*

c.7837G>T

1 paper

NM_001378183.1

p.L2718F

c.8152C>T

1 paper

NM_001378183.1

p.T2593_G2594Splc

c.7779+1G>A