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

1–12 of 230 variants

14 papers

NM_001034850.3

p.Q145*

c.433C>T

13 papers

NM_001034850.3

p.S309*

c.926C>G

11 papers

NM_001034850.3

p.G216R

c.646G>A

11 papers

NM_001034850.3

p.S309*

c.926C>A

9 papers

NM_001034850.3

p.G216R

c.646G>C

7 papers

NM_001034850.3

p.K291_I292Splc

c.873+2T>C

6 papers

NM_001034850.3

p.S276delFs

c.826delT

5 papers

NM_001034850.3

p.V203M

c.607G>A

4 papers

NM_001034850.3

p.I157I

c.471C>T

4 papers

NM_001034850.3

p.D272D

c.816C>T

4 papers

NM_001034850.3

p.S276fs

c.826_827fs

4 papers

NM_001034850.3

p.K299fs

c.895_896fs