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

1 paper

NM_019098.5

p.T486A

c.1456A>G

Surrounding Variants

3 papers

NM_019098.5

p.Y485F

c.1454A>T

3 papers

NM_019098.5

p.W487*

c.1460G>A

2 papers

NM_019098.5

p.W487*

c.1461G>A

1 paper

NM_019098.5

p.E484G

c.1451A>G

1 paper

NM_019098.5

p.D488N

c.1462G>A

1 paper

NM_019098.5

p.Y483D

c.1447T>G

2 papers

NM_019098.5

p.T481insFs

c.1443dupT

2 papers

NM_019098.5

p.W482insFs

c.1444_1445insC

2 papers

NM_019098.5

p.T481_W482insFs

c.1443_1444insC

1 paper

NM_019098.5

p.R480Q

c.1439G>A

1 paper

NM_019098.5

p.M492_L493insT

c.1474_1478ins3

1 paper

NM_019098.5

p.V479delins

c.1435_1436delinsGT