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

6 papers

NM_001371986.1

p.R51*

c.151C>T

Surrounding Variants

1 paper

NM_001371986.1

p.N56fs

c.166_167fs

1 paper

NM_001371986.1

p.L61F

c.181C>T

1 paper

NM_001371986.1

p.S62Y

c.185C>A

1 paper

NM_001371986.1

p.I69T

c.206T>C

1 paper

NM_001371986.1

p.S73Y

c.218C>A

1 paper

NM_001371986.1

p.W75L

c.224G>T

2 papers

NM_001371986.1

p.R96*

c.286C>T

1 paper

NM_001371986.1

p.N97Y

c.289A>T

1 paper

NM_001371986.1

p.T110T

c.330A>T

1 paper

NM_001371986.1

p.H117Q

c.351C>A

1 paper

NM_001371986.1

p.H117Q

c.351C>G

1 paper

NM_001371986.1

p.L120ins0

c.358_360dupCTT