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.P1755Q

c.5264C>A

Surrounding Variants

1 paper

NM_001371986.1

p.L1752F

c.5254C>T

4 papers

NM_032504.2

p.P1700S

c.5098C>T

3 papers

NM_032504.2

p.R1655C

c.4963C>T

4 papers

NM_032504.2

p.L1642_L1646del0

c.4926_4937del12

1 paper

NM_001371986.1

p.E1703Q

c.5107G>C

3 papers

NM_001371986.1

p.H1700Y

c.5098C>T

1 paper

NM_001371986.1

p.A1690A

c.5070C>T

1 paper

NM_001371986.1

p.S1785S

c.5355A>G

1 paper

NM_001371986.1

p.H1793_Q1794del2

c.5377_5381del6

1 paper

NM_001371986.1

p.A1828T

c.5482G>A

2 papers

NM_001371986.1

p.T1650R

c.4949C>G

1 paper

NM_001371986.1

p.A1645G

c.4934C>G