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

7 papers

NM_001034850.3

p.K291_I292Splc

c.873+2T>C

Surrounding Variants

1 paper

NM_001034850.3

p.S286L

c.857C>T

1 paper

NM_001034850.3

p.K291_I292Splc

c.873+23T>C

1 paper

NM_001034850.3

p.L283F

c.849A>T

1 paper

NM_001034850.3

p.L283F

c.849A>C

1 paper

NM_001034850.3

p.E282D

c.846A>T

1 paper

NM_001034850.3

p.E282D

c.846A>C

1 paper

NM_001034850.3

p.D280D

c.840C>T

2 papers

NM_001034850.3

p.D280N

c.838G>A

6 papers

NM_001034850.3

p.S276delFs

c.826delT

4 papers

NM_001034850.3

p.S276fs

c.826_827fs

2 papers

NM_001034850.3

p.S276C

c.826A>T

4 papers

NM_001034850.3

p.D272D

c.816C>T