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.H725R

c.2174A>G

Surrounding Variants

1 paper

NM_001378183.1

p.E727K

c.2179G>A

1 paper

NM_001378183.1

p.Q723_V724Splc

c.2170-15A>G

1 paper

NM_001378183.1

p.L748I

c.2242C>A

1 paper

NM_001378183.1

p.Y722*

c.2166C>G

1 paper

NM_001378183.1

p.Y722*

c.2166C>A

3 papers

NM_001378183.1

p.M712I

c.2136G>T

3 papers

NM_001378183.1

p.M712I

c.2136G>C

3 papers

NM_001378183.1

p.M712I

c.2136G>A

7 papers

NM_001378183.1

p.M712V

c.2134A>G

1 paper

NM_001378183.1

p.K703ins1

c.2107_2108insAGG

1 paper

NM_001378183.1

p.G702A

c.2105G>C

1 paper

NM_001378183.1

p.C691*

c.2073C>A