Varaico: Literature-Extracted Genetic Variants

Gene:TMPRSS7
Variant:p.T595Splc

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.T595Splc
c.1783+1G>A
Surrounding Variants
1 paper
NM_001395507.1
p.C579_G581del3
c.1735_1742del9
1 paper
NM_001042575.2
p.R479H
c.1436G>A
1 paper
NM_001395507.1
p.D655N
c.1963G>A
2 papers
NM_001395507.1
p.T690S
c.2068A>T
1 paper
NM_001395507.1
p.S701N
c.2102G>A
1 paper
NM_001395507.1
p.W704C
c.2112G>C
1 paper
NM_001395507.1
p.W704C
c.2112G>T
1 paper
NM_001395507.1
p.K729E
c.2185A>G
1 paper
NM_001395507.1
p.W735S
c.2204G>C
1 paper
NM_001395507.1
p.V748I
c.2242G>A
1 paper
NM_001395507.1
p.K787_G788Splc
c.2362-10G>T
1 paper
NM_001042575.2
p.S685insFs
c.2053dupA
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