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.E393Splc

c.1178+6T>C

Surrounding Variants

2 papers

NM_019098.5

p.E393Splc

c.1178+5G>T

2 papers

NM_019098.5

p.E393Splc

c.1178+9T>C

1 paper

NM_019098.5

p.E393fs

c.1177_1178fs

1 paper

NM_019098.5

p.N392_E393insFs

c.1176_1177insAC

2 papers

NM_019098.5

p.G391E

c.1172G>A

1 paper

NM_019098.5

p.G389_E390insFs

c.1167_1168insC

2 papers

NM_019098.5

p.R384_Y387del4

c.1150_1160del12

1 paper

NM_019098.5

p.W385G

c.1153T>G

1 paper

NM_019098.5

p.W385R

c.1153T>C

1 paper

NM_019098.5

p.W385R

c.1153T>A

1 paper

NM_019098.5

p.T383del1

c.1147_1148delAGT

34 papers

NM_019098.5

p.T383fs

c.1147_1148fs