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_019000.5

p.K19delFs

c.56delT

Surrounding Variants

1 paper

NM_001034850.3

p.P161A

c.481C>G

2 papers

NM_001034850.3

p.K160R

c.479A>G

1 paper

NM_001034850.3

p.D162N

c.484G>A

1 paper

NM_001034850.3

p.K160Q

c.478A>C

1 paper

NM_019000.5

p.S18delFs

c.54delG

1 paper

NM_019000.5

p.S18S

c.54C>A

2 papers

NM_001034850.3

p.E163K

c.487G>A

1 paper

NM_001034850.3

p.N158T

c.473A>C

2 papers

NM_001034850.3

p.N158Y

c.472A>T

1 paper

NM_001034850.3

p.R164G

c.490A>G

1 paper

NM_019000.5

p.E22delFs

c.65delT

4 papers

NM_001034850.3

p.I157I

c.471C>T