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.G138C

c.412G>T

Surrounding Variants

3 papers

NM_001371986.1

p.T135I

c.404C>T

1 paper

NM_001371986.1

p.W141C

c.423G>C

1 paper

NM_001371986.1

p.W141C

c.423G>T

1 paper

NM_001371986.1

p.S145C

c.433A>T

1 paper

NM_001371986.1

p.R131W

c.391C>T

1 paper

NM_001371986.1

p.I149V

c.445A>G

1 paper

NM_001371986.1

p.H150N

c.448C>A

1 paper

NM_001371986.1

p.P124H

c.371C>A

1 paper

NM_001371986.1

p.Q151H

c.453G>C

1 paper

NM_001371986.1

p.Q151H

c.453G>T

1 paper

NM_001371986.1

p.P124T

c.370C>A

1 paper

NM_001371986.1

p.L120ins0

c.358_360dupCTT