Varaico: Literature-Extracted Genetic Variants

Gene:TMPRSS7
Variant:p.V182_M183del1

TMPRSS7

41 papers

Pfam Domains

SEAaa 108–214UCSCSEA domain
SEAaa 108–214UCSCSEA domain
CUBaa 247–357UCSCCUB domain
CUBaa 365–469UCSCCUB domain
CUBaa 365–469UCSCCUB domain
Ldl_recept_aaa 482–518UCSCLow-density lipoprotein receptor domain class A

Gene Aliases

HGNC Name

transmembrane serine protease 7

HGNC Previous Names

type II transmembrane serine protease 7; transmembrane protease, serine 7

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001395507.1
p.V182_M183del1
c.546_548delCAT
Surrounding Variants
3 papers
NM_001395507.1
p.G172delFs
c.516delC
1 paper
NM_001395507.1
p.E193_D194del1
c.579_581delAGA
1 paper
NM_001395507.1
p.S166I
c.497G>T
1 paper
NM_001395507.1
p.S166G
c.496A>G
1 paper
NM_001395507.1
p.A253T
c.757G>A
1 paper
NM_001395507.1
p.L287P
c.860T>C
1 paper
NM_001395507.1
p.N298fs
c.892_893fs
1 paper
NM_001395507.1
p.S135L
c.404C>T
1 paper
NM_001395507.1
p.L134I
c.400C>A
1 paper
NM_001395507.1
p.E129K
c.385G>A
1 paper
NM_001395507.1
p.R115C
c.343C>T
1 paper
NM_001395507.1
p.T102I
c.305C>T
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