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_032504.2

p.Q2957Q

c.8871G>A

Surrounding Variants

1 paper

NM_032504.2

p.R2940C

c.8818C>T

1 paper

NM_001371986.1

p.K2957K

c.8871G>A

1 paper

NM_001371986.1

p.Q2940*

c.8818C>T

3 papers

NM_032504.2

p.R2842Q

c.8525G>A

1 paper

NM_032504.2

p.R2842G

c.8524C>G

1 paper

NM_001371986.1

p.V3048M

c.9142G>A

1 paper

NM_001371986.1

p.R3064*

c.9190C>T

1 paper

NM_001371986.1

p.A3077_E3078del2

c.9229_9233del6

1 paper

NM_001371986.1

p.A3077_E3078del1

c.9231_9233delTGA

1 paper

NM_001371986.1

p.Q3085E

c.9253C>G

3 papers

NM_032504.2

p.Y2795*

c.8385C>A

3 papers

NM_032504.2

p.Y2795*

c.8385C>G