Varaico: Literature-Extracted Genetic Variants

Gene:CREB3L1
Variant:p.L201P

CREB3L1

143 papers

RefSeq Summary

The protein encoded by this gene is normally found in the membrane of the endoplasmic reticulum (ER). However, upon stress to the ER, the encoded protein is cleaved and the released cytoplasmic transc...

Pfam Domains

bZIP_1aa 288–351UCSCbZIP transcription factor

Gene Aliases

HGNC Name

cAMP responsive element binding protein 3 like 1

HGNC Alias Symbol

OASIS

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_052854.4
p.L201P
c.602T>C
Surrounding Variants
1 paper
NM_052854.4
p.L201M
c.601C>A
5 papers
NM_052854.4
p.D200V
c.599A>T
1 paper
NM_052854.4
p.T207_P208del1
c.621_623delGCC
1 paper
NM_052854.4
p.S216N
c.647G>A
2 papers
NM_052854.4
p.G218R
c.652G>C
1 paper
NM_052854.4
p.Q220*
c.658C>T
1 paper
NM_052854.4
p.P226T
c.676C>A
2 papers
NM_052854.4
p.P226L
c.677C>T
1 paper
NM_052854.4
p.P227A
c.679C>G
1 paper
NM_052854.4
p.P227P
c.681C>A
1 paper
NM_052854.4
p.R236C
c.706C>T
1 paper
NM_052854.4
p.S237Y
c.710C>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."