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

3 papers

NM_001371986.1

p.P2059S

c.6175C>T

Surrounding Variants

1 paper

NM_001371986.1

p.A2016T

c.6046G>A

1 paper

NM_032504.2

p.K2081E

c.6241A>G

2 papers

NM_001371986.1

p.E2150delFs

c.6448delG

1 paper

NM_001371986.1

p.R1968*

c.5902A>T

4 papers

NM_032504.2

p.R1891*

c.5671C>T

2 papers

NM_032504.2

p.V1870Splc

c.5609-4G>A

1 paper

NM_001371986.1

p.G2165G

c.6495G>A

1 paper

NM_001371986.1

p.S2172F

c.6515C>T

1 paper

NM_001371986.1

p.P2197S

c.6589C>T

1 paper

NM_001371986.1

p.H1891Y

c.5671C>T

2 papers

NM_032504.2

p.W2165*

c.6494G>A

2 papers

NM_032504.2

p.W2165*

c.6495G>A