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

2 papers

NM_000138.5

p.C2581S

c.7741T>A

Surrounding Variants

2 papers

NM_000138.5

p.C2581F

c.7742G>T

2 papers

NM_000138.5

p.C2581S

c.7742G>C

3 papers

NM_000138.5

p.C2581Y

c.7742G>A

1 paper

NM_000138.5

p.G2580D

c.7739G>A

1 paper

NM_000138.5

p.C2581W

c.7743C>G

1 paper

NM_000138.5

p.Q2582L

c.7745A>T

1 paper

NM_000138.5

p.Q2582P

c.7745A>C

1 paper

NM_000138.5

p.Q2582delFs

c.7745_7746delCT

1 paper

NM_000138.5

p.Q2578*

c.7732C>T

3 papers

NM_000138.5

p.Q2578K

c.7732C>A

2 papers

NM_000138.5

p.C2577Y

c.7730G>A

2 papers

NM_000138.5

p.C2577R

c.7729T>C