Varaico: Literature-Extracted Genetic Variants

UNC79

72 papers

RefSeq Summary

The NALCN channel is responsible for Na(+) leak currents. The protein encoded by this gene, along with UNC80, is an accessory subunit of the NALCN channel that contributes to the Ca(2+) sensitivity of...

Pfam Domains

UNC-79aa 112–645UCSCProtein unc-79 homolog, N-terminal region

HEAT_UNC79_Caa 2079–2707UCSCUNC79, C-terminal HEAT repeats

Gene Aliases

HGNC Name

unc-79 subunit of NALCN channel complex

HGNC Previous Symbol

KIAA1409

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001395159.1

p.S1357*

c.4070C>G

Surrounding Variants

1 paper

NM_001395159.1

p.S1357*

c.4070C>A

1 paper

NM_001395159.1

p.R1332Q

c.3995G>A

1 paper

NM_001395159.1

p.S1316delFs

c.3947delG

1 paper

NM_001346218.2

p.V1363L

c.4087G>C

1 paper

NM_001346218.2

p.V1363L

c.4087G>T

1 paper

NM_020818.5

p.K1231_Y1232Splc

c.3693+1G>A

1 paper

NM_001395159.1

p.Y1433F

c.4298A>T

1 paper

NM_001395159.1

p.S1480S

c.4440C>T

1 paper

NM_001395159.1

p.K1515delFs

c.4544delA

2 papers

NM_001395159.1

p.L1552I

c.4654C>A

1 paper

NM_001346218.2

p.L1552I

c.4654C>A

1 paper

NM_001395159.1

p.C1594F

c.4781G>T