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.T514N

c.1541C>A

Surrounding Variants

2 papers

NM_001378183.1

p.S512N

c.1535G>A

5 papers

NM_001378183.1

p.S517fs

c.1549_1550fs

4 papers

NM_001378183.1

p.S517_W518Fs

c.1550_1552delinsCGAAFs

1 paper

NM_001378183.1

p.S517_W518del1

c.1550_1552delAGC

2 papers

NM_001378183.1

p.M509_A510Splc

c.1528-1G>T

1 paper

NM_001378183.1

p.W531R

c.1591T>C

1 paper

NM_001378183.1

p.W531R

c.1591T>A

1 paper

NM_001378183.1

p.N535S

c.1604A>G

1 paper

NM_001378183.1

p.L555S

c.1664T>C

1 paper

NM_001378183.1

p.E567K

c.1699G>A

2 papers

NM_001378183.1

p.G581*

c.1741G>T

1 paper

NM_001378183.1

p.K586_I587Splc

c.1758+67C>G