Varaico: Literature-Extracted Genetic Variants

FBN1

1,753 papers

RefSeq Summary

This gene encodes a member of the fibrillin family of proteins. The encoded preproprotein is proteolytically processed to generate two proteins including the extracellular matrix component fibrillin-1...

Pfam Domains

Fibrillin_U_Naa 44–82UCSCFibrillin 1 unique N-terminal domain

EGF_FBN_1staa 89–110UCSCFibrillin, first EGF domain

TBaa 193–231UCSCTB domain

EGF_CAaa 246–286UCSCCalcium-binding EGF domain

EGF_CAaa 288–328UCSCCalcium-binding EGF domain

TBaa 343–389UCSCTB domain

Gene Aliases

HGNC Name

fibrillin 1

HGNC Previous Symbols

MFS1; WMS

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_000138.5

p.H2139R

c.6416A>G

Surrounding Variants

1 paper

NM_000138.5

p.H2139Q

c.6417T>G

1 paper

NM_000138.5

p.H2139Q

c.6417T>A

1 paper

NM_000138.5

p.H2139Y

c.6415C>T

1 paper

NM_000138.5

p.K2138delFs

c.6414delT

3 papers

NM_000138.5

p.G2140R

c.6418G>C

4 papers

NM_000138.5

p.G2140R

c.6418G>A

1 paper

NM_000138.5

p.G2140V

c.6419G>T

1 paper

NM_000138.5

p.G2140A

c.6419G>C

2 papers

NM_000138.5

p.G2140E

c.6419G>A

1 paper

NM_000138.5

p.G2140G

c.6420A>T

1 paper

NM_000138.5

p.G2140G

c.6420A>G

1 paper

NM_000138.5

p.G2140G

c.6420A>C