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_022068.4

p.M998I

c.2994G>T

NM_001378183.1

p.M1023I

c.3069G>T

Surrounding Variants

1 paper

NM_022068.4

p.M998I

c.2994G>C

NM_001378183.1

p.M1023I

c.3069G>C

1 paper

NM_022068.4

p.M998I

c.2994G>A

NM_001378183.1

p.M1023I

c.3069G>A

7 papers

NM_022068.4

p.M998T

c.2993T>C

NM_001378183.1

p.M1023T

c.3068T>C

2 papers

NM_001378183.1

p.M1023_L1024delFs

c.3067_3070del4

5 papers

NM_022068.4

p.P1007fs

c.3019_3020fs

5 papers

NM_022068.4

p.P1007_F1010delFs

c.3020_3030del11

2 papers

NM_001378183.1

p.A1007_V1010delFs

c.3019_3029del11

1 paper

NM_001378183.1

p.A1007fs

c.3019_3020fs

2 papers

NM_001378183.1

p.R1005C

c.3013C>T

1 paper

NM_001378183.1

p.L998L

c.2994G>A

2 papers

NM_001378183.1

p.L998P

c.2993T>C

1 paper

NM_001378183.1

p.N1084S

c.3251A>G