Varaico: Literature-Extracted Genetic Variants

Gene:RER1
Variant:p.Q27_I28Splc

RER1

16 papers

RefSeq Summary

The protein encoded by this gene is a multi-pass membrane protein that is localized to the golgi apparatus. It is involved in the retention of endoplasmic reticulum (ER) membrane proteins in the ER an...

Pfam Domains

Rer1aa 20–185UCSCRer1 family

Gene Aliases

HGNC Name

retention in endoplasmic reticulum sorting receptor 1

HGNC Previous Name

RER1 retention in endoplasmic reticulum 1 homolog (S. cerevisiae)

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_007033.5
p.Q27_I28Splc
c.81+1G>T
Surrounding Variants
1 paper
NM_007033.5
p.Q27_I28Splc
c.81+2T>G
1 paper
NM_007033.5
p.P15H
c.44C>A
1 paper
NM_007033.5
p.V11I
c.31G>A
1 paper
NM_007033.5
p.E3K
c.7G>A
1 paper
NM_007033.5
p.D34N
c.100G>A
1 paper
NM_007033.5
p.W64S
c.191G>C
1 paper
NM_007033.5
p.A70V
c.209C>T
1 paper
NM_007033.5
p.L71L
c.211T>C
1 paper
NM_007033.5
p.Y74delFs
c.220delT
1 paper
NM_007033.5
p.Y74C
c.221A>G
1 paper
NM_007033.5
p.L76_N77del1
c.227_229delTAA
1 paper
NM_007033.5
p.I80L
c.238A>C
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