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.Q340H

c.1020G>T

Surrounding Variants

3 papers

NM_001371986.1

p.Q340H

c.1020G>C

1 paper

NM_001371986.1

p.Q340_P341delins

c.1020_1021delinsTT

3 papers

NM_001371986.1

p.P341S

c.1021C>T

1 paper

NM_001371986.1

p.R336C

c.1006C>T

1 paper

NM_001371986.1

p.Q349E

c.1045C>G

1 paper

NM_001371986.1

p.Y355N

c.1063T>A

1 paper

NM_001371986.1

p.L359L

c.1077G>A

4 papers

NM_001371986.1

p.R360*

c.1078C>T

2 papers

NM_001371986.1

p.P320Q

c.959C>A

1 paper

NM_001371986.1

p.P320L

c.959C>T

1 paper

NM_001371986.1

p.R313Splc

c.939-1G>T

1 paper

NM_001371986.1

p.P371L

c.1112C>T