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

3 papers

NM_019098.5

p.C234*

c.702T>A

Surrounding Variants

1 paper

NM_019098.5

p.N232_C234ins1

c.696_701dup6

6 papers

NM_019098.5

p.C234W

c.702T>G

1 paper

NM_019098.5

p.C234delins

c.701_702delinsAG

1 paper

NM_019098.5

p.C233del1

c.697_699delGCA

2 papers

NM_019098.5

p.C234Y

c.701G>A

1 paper

NM_019098.5

p.C233insFs

c.697dupT

2 papers

NM_019098.5

p.I236Fs

c.706delinsTTFs

1 paper

NM_019098.5

p.C234_I236Fs

c.702_706delinsGTTTTTFs

1 paper

NM_019098.5

p.I236fs

c.706_707fs

1 paper

NM_019098.5

p.F235_I236delFs

c.703_706del4

1 paper

NM_019098.5

p.F235_I236del2

c.703_707del6

1 paper

NM_019098.5

p.W231*

c.692G>A