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

1–12 of 274 variants

6 papers

NM_001371986.1

p.R51*

c.151C>T

6 papers

NM_001371986.1

p.V189M

c.565G>A

5 papers

NM_001371986.1

p.N678delFs

c.2033delA

5 papers

NM_032504.2

p.R1265*

c.3793C>T

5 papers

NM_032504.2

p.L2586*

c.7757T>A

4 papers

NM_001371986.1

p.R174*

c.520C>T

4 papers

NM_001371986.1

p.R360*

c.1078C>T

4 papers

NM_001371986.1

p.T488M

c.1463C>T

4 papers

NM_001371986.1

p.Q602H

c.1806G>C

4 papers

NM_001371986.1

p.Q602H

c.1806G>T

4 papers

NM_001371986.1

p.N678fs

c.2032_2033fs

4 papers

NM_001371986.1

p.L800delFs

c.2399delT