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_022068.4

p.S903*

c.2708C>G

Surrounding Variants

5 papers

NM_022068.4

p.S903*

c.2708C>A

1 paper

NM_001378183.1

p.R882R

c.2646G>A

1 paper

NM_001378183.1

p.L864P

c.2591T>C

1 paper

NM_001378183.1

p.L857P

c.2570T>C

1 paper

NM_001378183.1

p.S845Splc

c.2535-1G>A

1 paper

NM_001378183.1

p.S979S

c.2937T>A

1 paper

NM_001378183.1

p.G837R

c.2509G>C

1 paper

NM_001378183.1

p.G837S

c.2509G>A