Varaico: Literature-Extracted Genetic Variants

UNC80

185 papers

RefSeq Summary

The protein encoded by this gene is a component of a voltage-independent 'leak' ion-channel complex, in which it performs essential functions, such as serving as a bridge between two other components ...

Pfam Domains

UNC80_Naa 16–236UCSCUNC80 N-terminal

UNC80aa 1170–1431UCSCProtein UNC80 central region

UNC80aa 1425–1777UCSCProtein UNC80 central region

UNC80_Caa 1822–2909UCSCProtein UNC80 C-terminal region

Gene Aliases

HGNC Name

unc-80 subunit of NALCN channel complex

HGNC Previous Symbol

C2orf21

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001371986.1

p.F492L

c.1476C>G

Surrounding Variants

1 paper

NM_001371986.1

p.F492L

c.1476C>A

1 paper

NM_001371986.1

p.S493T

c.1477T>A

1 paper

NM_001371986.1

p.F492L

c.1474T>C

1 paper

NM_001371986.1

p.G495E

c.1484G>A

1 paper

NM_001371986.1

p.R489H

c.1466G>A

1 paper

NM_001371986.1

p.R489C

c.1465C>T

4 papers

NM_001371986.1

p.T488M

c.1463C>T

1 paper

NM_001371986.1

p.F497L

c.1489T>C

1 paper

NM_001371986.1

p.F497C

c.1490T>G

1 paper

NM_001371986.1

p.F497L

c.1491C>A

1 paper

NM_001371986.1

p.F497L

c.1491C>G

1 paper

NM_001371986.1

p.P487T

c.1459C>A