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.S436R

c.1308T>A

Surrounding Variants

2 papers

NM_019098.5

p.S436R

c.1308T>G

4 papers

NM_019098.5

p.S436N

c.1307G>A

1 paper

NM_019098.5

p.V433_S436insFs

c.1299_1306dup8

2 papers

NM_019098.5

p.S436R

c.1306A>C

20 papers

NM_019098.5

p.S435F

c.1304C>T

1 paper

NM_019098.5

p.I438T

c.1313T>C

1 paper

NM_019098.5

p.F434fs

c.1300_1301fs

3 papers

NM_019098.5

p.V433delFs

c.1298_1299delCA

1 paper

NM_019098.5

p.V433fs

c.1297_1298fs

3 papers

NM_019098.5

p.V433G

c.1298T>G

5 papers

NM_019098.5

p.Q440*

c.1318C>T

2 papers

NM_019098.5

p.F432delFs

c.1294delA