Varaico: Literature-Extracted Genetic Variants

RETREG1

115 papers

RefSeq Summary

The protein encoded by this gene is a cis-Golgi transmembrane protein that may be necessary for the long-term survival of nociceptive and autonomic ganglion neurons. Mutations in this gene are a cause...

Pfam Domains

RHD_RETREG1-3aa 74–257UCSCRETREG1-3/ARL6IP-like, N-terminal reticulon-homology domain

Gene Aliases

HGNC Name

reticulophagy regulator 1

HGNC Previous Symbol

FAM134B

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001034850.3

p.T208M

c.623C>T

Surrounding Variants

5 papers

NM_001034850.3

p.V203M

c.607G>A

1 paper

NM_001034850.3

p.I214S

c.641T>G

9 papers

NM_001034850.3

p.G216R

c.646G>C

11 papers

NM_001034850.3

p.G216R

c.646G>A

1 paper

NM_001034850.3

p.L199M

c.595C>A

1 paper

NM_001034850.3

p.L198delFs

c.593delA

1 paper

NM_001034850.3

p.I218_L219insFs

c.654_655insGG

1 paper

NM_001034850.3

p.C197Y

c.590G>A

1 paper

NM_001034850.3

p.L223L

c.667C>T

1 paper

NM_001034850.3

p.L224Splc

c.671-1G>A

1 paper

NM_001034850.3

p.C226S

c.676T>A

1 paper

NM_001034850.3

p.K241delFs

c.723delT