Varaico: Literature-Extracted Genetic Variants

Gene:FBLN7
Variant:p.R56H

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
2 papers
NM_153214.3
p.R56H
c.167G>A
Surrounding Variants
1 paper
NM_153214.3
p.G54S
c.160G>A
1 paper
NM_153214.3
p.A63T
c.187G>A
1 paper
NM_153214.3
p.A64T
c.190G>A
1 paper
NM_153214.3
p.V72L
c.214G>C
1 paper
NM_153214.3
p.R38C
c.112C>T
1 paper
NM_153214.3
p.C81*
c.243C>A
1 paper
NM_153214.3
p.T86N
c.257C>A
2 papers
NM_153214.3
p.P87A
c.259C>G
1 paper
NM_153214.3
p.D89D
c.267C>T
1 paper
NM_153214.3
p.S95C
c.283A>T
4 papers
NM_153214.3
p.V99E
c.296T>A
1 paper
NM_153214.3
p.E102K
c.304G>A
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