Varaico: Literature-Extracted Genetic Variants

Gene:FBLN7

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
1–12 of 57 variants
4 papers
NM_153214.3
p.V99E
c.296T>A
3 papers
NM_153214.3
p.R112Q
c.335G>A
3 papers
NM_153214.3
p.V119M
c.355G>A
2 papers
NM_153214.3
p.R56H
c.167G>A
2 papers
NM_153214.3
p.P87A
c.259C>G
2 papers
NM_153214.3
p.G115R
c.343G>A
2 papers
NM_153214.3
p.G115R
c.343G>C
2 papers
NM_153214.3
p.R236C
c.706C>T
1 paper
NM_153214.3
p.V2G
c.5T>G
1 paper
NM_153214.3
p.A8_L9delFs
c.24_25delGC
1 paper
NM_153214.3
p.S24_Q25del2
c.70_74del6
1 paper
NM_153214.3
p.R38C
c.112C>T
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