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.L224Splc

c.671-1G>A

Surrounding Variants

1 paper

NM_001034850.3

p.C226S

c.676T>A

1 paper

NM_001034850.3

p.K241delFs

c.723delT

1 paper

NM_001034850.3

p.S244T

c.731G>C

1 paper

NM_001034850.3

p.V249I

c.745G>A

3 papers

NM_001034850.3

p.L251P

c.752T>C

1 paper

NM_001034850.3

p.K252T

c.755A>C

1 paper

NM_001034850.3

p.D254A

c.761A>C

2 papers

NM_001034850.3

p.F255insFs

c.765dupT

1 paper

NM_001034850.3

p.G256fs

c.766_767fs

1 paper

NM_001034850.3

p.G256A

c.767G>C

1 paper

NM_001034850.3

p.G258A

c.773G>C

2 papers

NM_001034850.3

p.E259Q

c.775G>C