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

4 papers

NM_022068.4

p.A1486P

c.4456G>C

Surrounding Variants

1 paper

NM_001378183.1

p.A1553T

c.4657G>A

1 paper

NM_001378183.1

p.K1558insFs

c.4673dupA

1 paper

NM_001378183.1

p.Y1458C

c.4373A>G

1 paper

NM_001378183.1

p.S1583N

c.4748G>A

6 papers

NM_022068.4

p.R1575*

c.4723C>T

1 paper

NM_022068.4

p.R1575Q

c.4724G>A

1 paper

NM_001378183.1

p.A1614_I1615del2

c.4840_4844del6

1 paper

NM_001378183.1

p.C1414_G1418del5

c.4240_4253del15

1 paper

NM_022068.4

p.V1391_K1392delFs

c.4171_4174del4

1 paper

NM_022068.4

p.V1391fs

c.4171_4172fs

1 paper

NM_001378183.1

p.H1401Q

c.4203C>G