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.S2180S

c.6540C>G

Surrounding Variants

1 paper

NM_001378183.1

p.S2181F

c.6542C>T

1 paper

NM_001378183.1

p.D2179D

c.6537C>T

1 paper

NM_022068.4

p.S2059_R2064delFs

c.6175_6191del17

1 paper

NM_022068.4

p.A2050D

c.6149C>A

1 paper

NM_022068.4

p.G2119Splc

c.6355+1G>T

1 paper

NM_001378183.1

p.Q2251R

c.6752A>G

1 paper

NM_001378183.1

p.A2269T

c.6805G>A

2 papers

NM_001378183.1

p.V2299M

c.6895G>A

1 paper

NM_001378183.1

p.V2304I

c.6910G>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