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.Y372insFs

c.1116dupC

Surrounding Variants

1 paper

NM_019098.5

p.Y372delFs

c.1116delG

5 papers

NM_019098.5

p.W373*

c.1118G>A

1 paper

NM_019098.5

p.Y372Y

c.1116C>T

6 papers

NM_019098.5

p.W373*

c.1119G>A

1 paper

NM_019098.5

p.V370insFs

c.1110dupT

1 paper

NM_019098.5

p.Y371D

c.1111T>G

4 papers

NM_019098.5

p.Y372_S375del4

c.1114_1124del12

2 papers

NM_019098.5

p.Y377C

c.1130A>G

1 paper

NM_019098.5

p.E378*

c.1132G>T

1 paper

NM_019098.5

p.Y377del1

c.1129_1131delATA

1 paper

NM_019098.5

p.N367K

c.1101T>G

3 papers

NM_019098.5

p.I380T

c.1139T>C