Varaico: Literature-Extracted Genetic Variants

CLNS1A

18 papers

RefSeq Summary

This gene encodes a protein that functions in multiple regulatory pathways. The encoded protein complexes with numerous cytosolic proteins and performs diverse functions including regulation of small ...

Pfam Domains

Voldacsaa 35–164UCSCRegulator of volume decrease after cellular swelling

Voldacsaa 85–130UCSCRegulator of volume decrease after cellular swelling

Gene Aliases

HGNC Name

chloride nucleotide-sensitive channel 1A

HGNC Previous Symbol

CLCI

Papers

RefSeq ID

Protein change

DNA change

1–12 of 19 variants

1 paper

NM_001293.3

p.G11R

c.31G>C

1 paper

NM_001293.3

p.E14K

c.40G>A

1 paper

NM_001293.3

p.G31C

c.91G>T

1 paper

NM_001293.3

p.S45A

c.133T>G

1 paper

NM_001293.3

p.D48A

c.143A>C

1 paper

NM_001293.3

p.G49C

c.145G>T

1 paper

NM_001293.3

p.S62G

c.184A>G

1 paper

NM_001293.3

p.L66fs

c.196_197fs

1 paper

NM_001293.3

p.L66delFs

c.198delT

1 paper

NM_001293.3

p.R70Q

c.209G>A

1 paper

NM_001293.3

p.D72Y

c.214G>T

1 paper

NM_001293.3

p.E76A

c.227A>C