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

5 papers

NM_001371986.1

p.N678delFs

c.2033delA

Surrounding Variants

4 papers

NM_001371986.1

p.N678fs

c.2032_2033fs

1 paper

NM_001371986.1

p.S669T

c.2006G>C

1 paper

NM_001371986.1

p.R696K

c.2087G>A

1 paper

NM_001371986.1

p.G752D

c.2255G>A

1 paper

NM_001371986.1

p.G763S

c.2287G>A

1 paper

NM_001371986.1

p.G766S

c.2296G>A

1 paper

NM_001371986.1

p.D634Y

c.1900G>T

1 paper

NM_001371986.1

p.T623T

c.1869A>G

1 paper

NM_001371986.1

p.H610R

c.1829A>G

1 paper

NM_001371986.1

p.P606L

c.1817C>T

4 papers

NM_001371986.1

p.Q602H

c.1806G>C

4 papers

NM_001371986.1

p.Q602H

c.1806G>T