Varaico: Literature-Extracted Genetic Variants

Gene:CREB3L3
Variant:p.K245fs

CREB3L3

83 papers

RefSeq Summary

This gene encodes a member of the basic-leucine zipper family and the AMP-dependent transcription factor family. The encoded protein is localized to the endoplasmic reticulum and acts as a transcripti...

Pfam Domains

bZIP_1aa 241–304UCSCbZIP transcription factor
bZIP_1aa 241–304UCSCbZIP transcription factor

Gene Aliases

HGNC Name

cAMP responsive element binding protein 3 like 3

HGNC Alias Symbols

CREB-H; CREBH

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_032607.3
p.K245fs
c.733_734fs
Surrounding Variants
1 paper
NM_032607.3
p.K245insFs
c.733_734insG
1 paper
NM_032607.3
p.K245fs
c.733_734fs
1 paper
NM_032607.3
p.K245E
c.733A>G
2 papers
NM_032607.3
p.K245_K246Fs
c.733_738delinsGAAAAATFs
7 papers
NM_032607.3
p.L244insFs
c.732dupG
2 papers
NM_032607.3
p.V243insFs
c.729dupG
1 paper
NM_032607.3
p.R242P
c.725G>C
3 papers
NM_032607.3
p.R242*
c.724C>T
1 paper
NM_032607.3
p.R248H
c.743G>A
1 paper
NM_032607.3
p.R248L
c.743G>T
1 paper
NM_032607.3
p.E241*
c.721G>T
7 papers
NM_032607.3
p.E240K
c.718G>A
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