Varaico: Literature-Extracted Genetic Variants

Gene:AMER1
Variant:p.Q349delFs

AMER1

582 papers

RefSeq Summary

The protein encoded by this gene upregulates trancriptional activation by the Wilms tumor protein and interacts with many other proteins, including CTNNB1, APC, AXIN1, and AXIN2. Defects in this gene ...

Pfam Domains

AMERaa 1–520UCSCAPC membrane recruitment protein

Gene Aliases

HGNC Name

APC membrane recruitment protein 1

HGNC Previous Symbol

FAM123B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_152424.4
p.Q349delFs
c.1045delG
Surrounding Variants
1 paper
NM_152424.4
p.Q349fs
c.1045_1046fs
4 papers
NM_152424.4
p.Q349*
c.1045C>T
1 paper
NM_152424.4
p.Q349E
c.1045C>G
1 paper
NM_152424.4
p.G348fs
c.1042_1043fs
1 paper
NM_152424.4
p.G348delFs
c.1043delC
1 paper
NM_152424.4
p.R350fs
c.1048_1049fs
2 papers
NM_152424.4
p.G348S
c.1042G>A
2 papers
NM_152424.4
p.G348fs
c.1042_1043fs
1 paper
NM_152424.4
p.A345delFs
c.1035delG
1 paper
NM_152424.4
p.S343_A345del3
c.1027_1034del9
1 paper
NM_152424.4
p.N352N
c.1056C>T
39 papers
NM_152424.4
p.R353*
c.1057C>T
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