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.N1084S

c.3251A>G

Surrounding Variants

1 paper

NM_001378183.1

p.L1089L

c.3265C>T

1 paper

NM_001378183.1

p.R1100H

c.3299G>A

1 paper

NM_022068.4

p.R1081*

c.3241C>T

1 paper

NM_022068.4

p.R1081R

c.3243A>G

1 paper

NM_022068.4

p.R1083*

c.3247C>T

1 paper

NM_022068.4

p.R1083Q

c.3248G>A

3 papers

NM_001378183.1

p.G1148V

c.3443G>T

1 paper

NM_022068.4

p.E1125delFs

c.3373delC

2 papers

NM_022068.4

p.C1148F

c.3443G>T

NM_001378183.1

p.C1173F

c.3518G>T

1 paper

NM_001378183.1

p.Y1194C

c.3581A>G

1 paper

NM_022068.4

p.V1219M

c.3655G>A

5 papers

NM_022068.4

p.P1007_F1010delFs

c.3020_3030del11