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.G2650R

c.7948G>C

Surrounding Variants

1 paper

NM_032504.2

p.G2650R

c.7948G>A

1 paper

NM_032504.2

p.S2664G

c.7990A>G

1 paper

NM_001371986.1

p.F2739_V2743delFs

c.8215_8227del13

2 papers

NM_032504.2

p.Q2686_A2687Splc

c.8058+2T>G

1 paper

NM_001371986.1

p.L2710_V2711Splc

c.8130+2T>G

1 paper

NM_001371986.1

p.R2670*

c.8008C>T

3 papers

NM_032504.2

p.R2706*

c.8116C>T

2 papers

NM_001371986.1

p.S2795R

c.8385C>G

2 papers

NM_001371986.1

p.G2841R

c.8521G>A

3 papers

NM_032504.2

p.Y2795*

c.8385C>A

3 papers

NM_032504.2

p.Y2795*

c.8385C>G

1 paper

NM_001371986.1

p.K2664E

c.7990A>G