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

4 papers

NM_019098.5

p.S429delFs

c.1285delA

Surrounding Variants

3 papers

NM_019098.5

p.S429insFs

c.1285dupT

1 paper

NM_019098.5

p.S429fs

c.1285_1286fs

4 papers

NM_019098.5

p.S429fs

c.1285_1286fs

1 paper

NM_019098.5

p.N426_G430delFs

c.1278_1290del13

1 paper

NM_019098.5

p.F427L

c.1279T>C

1 paper

NM_019098.5

p.N426delFs

c.1276delT

1 paper

NM_019098.5

p.F432C

c.1295T>G

1 paper

NM_019098.5

p.N426I

c.1277A>T

2 papers

NM_019098.5

p.F432delFs

c.1294delA

3 papers

NM_019098.5

p.V433G

c.1298T>G

1 paper

NM_019098.5

p.V433fs

c.1297_1298fs

1 paper

NM_019098.5

p.L424P

c.1271T>C