Varaico: Literature-Extracted Genetic Variants

Gene:CREB3L4
Variant:p.D243D

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.D243D
c.729T>C
Surrounding Variants
1 paper
NM_001255978.2
p.K239_E240del2
c.715_719del6
1 paper
NM_001255978.2
p.K239del1
c.715_717delAAG
1 paper
NM_001255978.2
p.R237W
c.709C>T
1 paper
NM_001255978.2
p.R226H
c.677G>A
1 paper
NM_001255978.2
p.R226C
c.676C>T
1 paper
NM_001255978.2
p.I225fs
c.673_674fs
1 paper
NM_001255978.2
p.R222K
c.665G>A
1 paper
NM_001255978.2
p.C252F
c.755G>T
1 paper
NM_001255978.2
p.V263fs
c.787_788fs
1 paper
NM_001255978.2
p.P209L
c.626C>T
1 paper
NM_001255978.2
p.P205H
c.614C>A
1 paper
NM_001255978.2
p.R195C
c.583C>T
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