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.D1358N

c.4072G>A

Surrounding Variants

1 paper

NM_001378183.1

p.L1359delFs

c.4076delA

1 paper

NM_022068.4

p.S1364_I1365Splc

c.4092+1G>T

1 paper

NM_001378183.1

p.S1389_I1390Splc

c.4167+1G>A

1 paper

NM_001378183.1

p.H1401Q

c.4203C>G

1 paper

NM_022068.4

p.V1391fs

c.4171_4172fs

1 paper

NM_022068.4

p.V1391_K1392delFs

c.4171_4174del4

1 paper

NM_001378183.1

p.C1414_G1418del5

c.4240_4253del15

1 paper

NM_001378183.1

p.Y1458C

c.4373A>G

1 paper

NM_001378183.1

p.H1298delFs

c.3893delT

1 paper

NM_022068.4

p.V1219M

c.3655G>A

1 paper

NM_001378183.1

p.Y1194C

c.3581A>G

2 papers

NM_022068.4

p.C1148F

c.3443G>T

NM_001378183.1

p.C1173F

c.3518G>T