Varaico: Literature-Extracted Genetic Variants

Gene:CREB3L4
Variant:p.M125L

CREB3L4

57 papers

RefSeq Summary

This gene encodes a CREB (cAMP responsive element binding) protein with a transmembrane domain which localizes it to the ER membrane. The encoded protein is a transcriptional activator which contains ...

Pfam Domains

bZIP_1aa 215–291UCSCbZIP transcription factor

Gene Aliases

HGNC Name

cAMP responsive element binding protein 3 like 4

HGNC Alias Symbols

AIbZIP; CREB4; hJAL; ATCE1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001255978.2
p.M125L
c.373A>C
Surrounding Variants
1 paper
NM_001255978.2
p.T129I
c.386C>T
1 paper
NM_001255978.2
p.V116_E118del0
c.346_354del9
1 paper
NM_001255978.2
p.L112L
c.336C>G
1 paper
NM_001255978.2
p.P104delFs
c.312delC
1 paper
NM_001255978.2
p.P102L
c.305C>T
5 papers
NM_001255978.2
p.P95S
c.283C>T
1 paper
NM_001255978.2
p.S92Y
c.275C>A
1 paper
NM_001255978.2
p.S92F
c.275C>T
1 paper
NM_001255978.2
p.D88A
c.263A>C
1 paper
NM_001255978.2
p.C80delFs
c.239_240delGC
1 paper
NM_001255978.2
p.P75S
c.223C>T
1 paper
NM_001255978.2
p.S152F
c.455C>T
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