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.S312A

c.934T>G

Surrounding Variants

1 paper

NM_001034850.3

p.E310K

c.928G>A

1 paper

NM_001034850.3

p.T314I

c.941C>T

15 papers

NM_001034850.3

p.S309*

c.926C>G

NM_019000.5

p.S168*

c.503C>G

13 papers

NM_001034850.3

p.S309*

c.926C>A

NM_019000.5

p.S168*

c.503C>A

1 paper

NM_001034850.3

p.G317V

c.950G>T

2 papers

NM_001034850.3

p.K299delFs

c.896_897delTT

4 papers

NM_001034850.3

p.K299fs

c.895_896fs

1 paper

NM_019000.5

p.A157A

c.471C>T

1 paper

NM_001034850.3

p.T295A

c.883A>G

1 paper

NM_001034850.3

p.D333H

c.997G>C

1 paper

NM_001034850.3

p.D334Splc

c.1000+20G>T

1 paper

NM_001034850.3

p.K291_I292Splc

c.873+23T>C