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

14 papers

NM_001034850.3

p.Q145*

c.433C>T

Surrounding Variants

1 paper

NM_001034850.3

p.A144fs

c.430_431fs

2 papers

NM_001034850.3

p.R148*

c.442A>T

1 paper

NM_001034850.3

p.R148S

c.444A>T

1 paper

NM_001034850.3

p.R142T

c.425G>C

1 paper

NM_001034850.3

p.R142*

c.424A>T

1 paper

NM_001034850.3

p.R140*

c.418A>T

1 paper

NM_001034850.3

p.I132V

c.394A>G

3 papers

NM_001034850.3

p.R127C

c.379C>T

1 paper

NM_001034850.3

p.G126A

c.377G>C

1 paper

NM_001034850.3

p.I124M

c.372A>G

1 paper

NM_001034850.3

p.H118Y

c.352C>T

1 paper

NM_001034850.3

p.Y117C

c.350A>G