Varaico: Literature-Extracted Genetic Variants

Gene:EMC7

EMC7

26 papers

Pfam Domains

EMC7_beta-sandwaa 56–168UCSCER membrane protein complex subunit 7, beta-sandwich domain

Gene Aliases

HGNC Name

ER membrane protein complex subunit 7

HGNC Previous Symbol

C15orf24

Papers
RefSeq ID
Protein change
DNA change
1–12 of 19 variants
4 papers
NM_020154.3
p.L16_L17del1
c.48_50delAGC
4 papers
NM_020154.3
p.F77V
c.229T>G
3 papers
NM_020154.3
p.E48_R50del3
c.142_149del9
2 papers
NM_020154.3
p.W6delFs
c.16_17delCA
2 papers
NM_020154.3
p.L17del1
c.49_50delTAG
2 papers
NM_020154.3
p.L16_L17del2
c.46_50del6
2 papers
NM_020154.3
p.M167L
c.499A>T
2 papers
NM_020154.3
p.M167L
c.499A>C
2 papers
NM_020154.3
p.R192W
c.574C>T
1 paper
NM_020154.3
p.A3insFs
c.7dupG
1 paper
NM_020154.3
p.A65T
c.193G>A
1 paper
NM_020154.3
p.E73A
c.218A>C
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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."