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

1 paper

NM_000138.5

p.E2152K

c.6454G>A

Surrounding Variants

1 paper

NM_000138.5

p.E2152*

c.6454G>T

7 papers

NM_000138.5

p.C2151C

c.6453C>T

8 papers

NM_000138.5

p.C2151W

c.6453C>G

2 papers

NM_000138.5

p.C2151F

c.6452G>T

2 papers

NM_000138.5

p.C2151Y

c.6452G>A

1 paper

NM_000138.5

p.E2152delFs

c.6455delT

2 papers

NM_000138.5

p.C2153R

c.6457T>C

1 paper

NM_000138.5

p.C2151R

c.6451T>C

6 papers

NM_000138.5

p.C2153Y

c.6458G>A

1 paper

NM_000138.5

p.R2150L

c.6449G>T

1 paper

NM_000138.5

p.R2150P

c.6449G>C

5 papers

NM_000138.5

p.R2150H

c.6449G>A