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

5 papers

NM_022068.4

p.R1685P

c.5054G>C

Surrounding Variants

7 papers

NM_001378183.1

p.R1743*

c.5227C>T

NM_022068.4

p.R1685*

c.5053C>T

1 paper

NM_001378183.1

p.T1723A

c.5167A>G

1 paper

NM_001378183.1

p.R1774_E1775insFs

c.5322_5323insG

1 paper

NM_001378183.1

p.D1694fs

c.5080_5081fs

1 paper

NM_001378183.1

p.S1693insFs

c.5079dupC

1 paper

NM_001378183.1

p.A1838_R1839delFs

c.5512_5515del4

1 paper

NM_001378183.1

p.S1857I

c.5570G>T

1 paper

NM_001378183.1

p.R1874fs

c.5620_5621fs