Varaico: Literature-Extracted Genetic Variants

OPCML

32 papers

RefSeq Summary

This gene encodes a member of the IgLON subfamily in the immunoglobulin protein superfamily of proteins. The encoded preprotein is proteolytically processed to generate the mature protein. This protei...

Pfam Domains

I-setaa 36–132UCSCImmunoglobulin I-set domain

Ig_3aa 135–206UCSCImmunoglobulin domain

I-setaa 223–312UCSCImmunoglobulin I-set domain

Gene Aliases

HGNC Name

opioid binding protein/cell adhesion molecule like

HGNC Alias Symbols

OPCM; OBCAM; IGLON1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 29 variants

2 papers

NM_001012393.5

p.G233D

c.698G>A

1 paper

NM_001012393.5

p.T14insFs

c.42dupT

1 paper

NM_001012393.5

p.G21Splc

c.61+36691A>G

1 paper

NM_001012393.5

p.G21Splc

c.61+36692A>G

1 paper

NM_001012393.5

p.G21Splc

c.61+222780T>C

1 paper

NM_001012393.5

p.G21Splc

c.61+255482A>G

1 paper

NM_001012393.5

p.G21Splc

c.62-78708C>G

1 paper

NM_001012393.5

p.G21Splc

c.62-22120A>G

1 paper

NM_001012393.5

p.G71E

c.212G>A

1 paper

NM_002545.5

p.P95R

c.284C>G

1 paper

NM_001012393.5

p.S119F

c.356C>T

1 paper

NM_001012393.5

p.H122Y

c.364C>T