Varaico: Literature-Extracted Genetic Variants

Gene:BMERB1

BMERB1

17 papers

Pfam Domains

bMERB_domaa 11–148UCSCBivalent Mical/EHBP Rab binding domain

Gene Aliases

HGNC Name

bMERB domain containing 1

HGNC Previous Symbol

C16orf45

Papers
RefSeq ID
Protein change
DNA change
1–12 of 15 variants
2 papers
NM_033201.3
p.T106N
c.317C>A
1 paper
NM_033201.3
p.A22fs
c.64_65fs
1 paper
NM_033201.3
p.E25V
c.74A>T
1 paper
NM_033201.3
p.E31D
c.93G>C
1 paper
NM_033201.3
p.E31D
c.93G>T
1 paper
NM_033201.3
p.N36Splc
c.107-11264G>T
1 paper
NM_033201.3
p.I53T
c.158T>C
1 paper
NM_033201.3
p.R64Q
c.191G>A
1 paper
NM_033201.3
p.R70W
c.208C>T
1 paper
NM_033201.3
p.M77I
c.231G>A
1 paper
NM_033201.3
p.M77I
c.231G>C
1 paper
NM_033201.3
p.M77I
c.231G>T
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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."