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.N883N

c.2649C>T

Surrounding Variants

1 paper

NM_001371986.1

p.G881R

c.2641G>A

1 paper

NM_001371986.1

p.G881R

c.2641G>C

1 paper

NM_001371986.1

p.A878S

c.2632G>T

1 paper

NM_001371986.1

p.A903T

c.2707G>A

1 paper

NM_001371986.1

p.F905delFs

c.2715delT

1 paper

NM_001371986.1

p.S907F

c.2720C>T

1 paper

NM_001371986.1

p.T910I

c.2729C>T

1 paper

NM_001371986.1

p.R911C

c.2731C>T

2 papers

NM_001371986.1

p.P922S

c.2764C>T

1 paper

NM_001371986.1

p.L925M

c.2773C>A

1 paper

NM_001371986.1

p.H863Y

c.2587C>T

1 paper

NM_001371986.1

p.D838V

c.2513A>T