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

1–12 of 280 variants

11 papers

NM_001378183.1

p.I802F

c.2404A>T

9 papers

NM_022068.4

p.E2727_D2728del1

c.8181_8183delTCT

8 papers

NM_022068.4

p.R2686C

c.8056C>T

7 papers

NM_001378183.1

p.R462*

c.1384C>T

7 papers

NM_001378183.1

p.M712V

c.2134A>G

7 papers

NM_022068.4

p.S903*

c.2708C>G

7 papers

NM_022068.4

p.M998T

c.2993T>C

6 papers

NM_022068.4

p.R1575*

c.4723C>T

6 papers

NM_022068.4

p.R1685*

c.5053C>T

6 papers

NM_022068.4

p.L1874delFs

c.5621delA

6 papers

NM_022068.4

p.S2223L

c.6668C>T

6 papers

NM_001378183.1

p.S2686N

c.8057G>A