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

4 papers

NM_001371986.1

p.Q602H

c.1806G>T

Surrounding Variants

4 papers

NM_001371986.1

p.Q602H

c.1806G>C

1 paper

NM_001371986.1

p.C600R

c.1798T>C

1 paper

NM_001371986.1

p.L599R

c.1796T>G

1 paper

NM_001371986.1

p.P606L

c.1817C>T

1 paper

NM_001371986.1

p.H610R

c.1829A>G

1 paper

NM_001371986.1

p.F591I

c.1771T>A

1 paper

NM_001371986.1

p.G587delFs

c.1759delG

1 paper

NM_001371986.1

p.N585S

c.1754A>G

1 paper

NM_001371986.1

p.A582V

c.1745C>T

1 paper

NM_001371986.1

p.T623T

c.1869A>G

1 paper

NM_001371986.1

p.D634Y

c.1900G>T

2 papers

NM_001371986.1

p.R566*

c.1696C>T