Varaico: Literature-Extracted Genetic Variants

Gene:TMEM47
Variant:p.Q49E

TMEM47

11 papers

RefSeq Summary

This gene encodes a member of the PMP22/EMP/claudin protein family. The encoded protein is localized to the ER and the plasma membrane. In dogs, transcripts of this gene exist at high levels in the br...

Pfam Domains

PMP22_Claudinaa 18–170UCSCPMP-22/EMP/MP20/Claudin family

Gene Aliases

HGNC Name

transmembrane protein 47

HGNC Previous Symbol

TM4SF10

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_031442.4
p.Q49E
c.145C>G
Surrounding Variants
1 paper
NM_031442.4
p.W43_Q49del0
c.128_145del18
1 paper
NM_031442.4
p.V38_A46del0
c.112_138del27
1 paper
NM_031442.4
p.T45_Y50del0
c.133_150del18
1 paper
NM_031442.4
p.P41_A46del0
c.121_138del18
1 paper
NM_031442.4
p.L35_A46del0
c.103_138del36
1 paper
NM_031442.4
p.A46_Y51del0
c.138_152del15
1 paper
NM_031442.4
p.P41_T45del0
c.123_134del12
1 paper
NM_031442.4
p.W43_V44del1
c.129_131delACC
1 paper
NM_031442.4
p.P41_S53del0
c.122_157del36
1 paper
NM_031442.4
p.L39_P41delins
c.116_122delinsC
1 paper
NM_031442.4
p.S57T
c.169T>A
1 paper
NM_031442.4
p.L35_S40del0
c.105_119del15
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