Varaico: Literature-Extracted Genetic Variants

CNGB3

437 papers

RefSeq Summary

This gene encodes the beta subunit of a cyclic nucleotide-gated ion channel. The encoded beta subunit appears to play a role in modulation of channel function in cone photoreceptors. This heterotetram...

Pfam Domains

Ion_transaa 218–453UCSCIon transport protein

cNMP_bindingaa 542–631UCSCCyclic nucleotide-binding domain

Gene Aliases

HGNC Name

cyclic nucleotide gated channel subunit beta 3

HGNC Previous Symbols

ACHM3; ACHM1; RMCH

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_019098.5

p.T481_W482insFs

c.1443_1444insC

Surrounding Variants

2 papers

NM_019098.5

p.W482insFs

c.1444_1445insC

2 papers

NM_019098.5

p.T481insFs

c.1443dupT

1 paper

NM_019098.5

p.Y483D

c.1447T>G

1 paper

NM_019098.5

p.R480Q

c.1439G>A

1 paper

NM_019098.5

p.V479delins

c.1435_1436delinsGT

1 paper

NM_019098.5

p.E484G

c.1451A>G

1 paper

NM_019098.5

p.R478Q

c.1433G>A

16 papers

NM_019098.5

p.R478*

c.1432C>T

1 paper

NM_019098.5

p.K477delFs

c.1431delC

3 papers

NM_019098.5

p.Y485F

c.1454A>T

1 paper

NM_019098.5

p.K477N

c.1431G>T

1 paper

NM_019098.5

p.K477fs

c.1429_1430fs