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

3 papers

NM_022068.4

p.R2718Q

c.8153G>A

Surrounding Variants

6 papers

NM_022068.4

p.R2718L

c.8153G>T

4 papers

NM_022068.4

p.R2718P

c.8153G>C

1 paper

NM_022068.4

p.R2718*

c.8152C>T

10 papers

NM_022068.4

p.E2727_D2728del1

c.8181_8183delTCT

NM_001378183.1

p.E2727del1

c.8179_8180delTTC

1 paper

NM_022068.4

p.R2706Q

c.8117G>A

6 papers

NM_022068.4

p.L2736delFs

c.8208delT

5 papers

NM_022068.4

p.Y2737fs

c.8209_8210fs

6 papers

NM_022068.4

p.S2739P

c.8215T>C

2 papers

NM_022068.4

p.S2690R

c.8070T>G

2 papers

NM_022068.4

p.S2690R

c.8070T>A

2 papers

NM_022068.4

p.W2746fs

c.8236_8237fs

5 papers

NM_022068.4

p.W2746*

c.8237G>A

NM_001378183.1

p.W2859*

c.8576G>A