Varaico: Literature-Extracted Genetic Variants

Gene:FBLN7
Variant:p.A193V

FBLN7

68 papers

Pfam Domains

Sushiaa 81–134UCSCSushi repeat (SCR repeat)
EGFaa 140–170UCSCEGF-like domain
FXa_inhibitionaa 234–268UCSCCoagulation Factor Xa inhibitory site
FXa_inhibitionaa 234–268UCSCCoagulation Factor Xa inhibitory site
EGF_CAaa 270–323UCSCCalcium-binding EGF domain
EGF_CAaa 270–323UCSCCalcium-binding EGF domain

Gene Aliases

HGNC Name

fibulin 7

HGNC Alias Symbols

FLJ37440; TM14

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_153214.3
p.A193V
c.578C>T
Surrounding Variants
1 paper
NM_153214.3
p.G186C
c.556G>T
1 paper
NM_153214.3
p.D224Splc
c.670+86C>T
2 papers
NM_153214.3
p.R236C
c.706C>T
1 paper
NM_153214.3
p.R236H
c.707G>A
1 paper
NM_153214.3
p.L239H
c.716T>A
1 paper
NM_153214.3
p.A243T
c.727G>A
1 paper
NM_153214.3
p.L277Q
c.830T>A
1 paper
NM_153214.3
p.N307D
c.919A>G
1 paper
NM_153214.3
p.Y310S
c.929A>C
1 paper
NM_153214.3
p.T353M
c.1058C>T
1 paper
NM_153214.3
p.L354P
c.1061T>C
1 paper
NM_153214.3
p.A362V
c.1085C>T
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