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

2 papers

NM_022068.4

p.W1965*

c.5895G>A

Surrounding Variants

1 paper

NM_022068.4

p.W1965*

c.5894G>A

1 paper

NM_001378183.1

p.P2059_L2064delFs

c.6175_6191del17

1 paper

NM_001378183.1

p.P2059delFs

c.6175_6176delGG

1 paper

NM_001378183.1

p.Q2017E

c.6049C>G

6 papers

NM_022068.4

p.L1874delFs

c.5621delA

5 papers

NM_022068.4

p.L1874fs

c.5620_5621fs

1 paper

NM_001378183.1

p.G1963D

c.5888G>A

1 paper

NM_001378183.1

p.A1902T

c.5704G>A

1 paper

NM_001378183.1

p.R1874fs

c.5620_5621fs

1 paper

NM_001378183.1

p.E2086_V2087Splc

c.6259-5C>T

1 paper

NM_001378183.1

p.E2107_V2108insAGG

c.6319_6323ins9

1 paper

NM_022068.4

p.P2004R

c.6011C>G