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

4 papers

NM_032504.2

p.W1240*

c.3719G>A

Surrounding Variants

4 papers

NM_032504.2

p.W1240*

c.3720G>A

1 paper

NM_001371986.1

p.E1237D

c.3711G>C

1 paper

NM_001371986.1

p.G1241R

c.3721G>C

1 paper

NM_001371986.1

p.H1242P

c.3725A>C

1 paper

NM_001371986.1

p.N1231T

c.3692A>C

1 paper

NM_001371986.1

p.P1257S

c.3769C>T

7 papers

NM_032504.2

p.R1265*

c.3793C>T

NM_182587.4

p.R1260*

c.3778C>T

NM_001371986.1

p.R1263*

c.3787C>T

2 papers

NM_001371986.1

p.Q1265*

c.3793C>T

1 paper

NM_001371986.1

p.L1267M

c.3799C>A

1 paper

NM_032504.2

p.E1295Q

c.3883G>C

2 papers

NM_001371986.1

p.E1295Q

c.3883G>C

1 paper

NM_001371986.1

p.D1306N

c.3916G>A