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.D1155Splc

c.3464-4A>G

Surrounding Variants

6 papers

NM_000138.5

p.D1155Splc

c.3464-5G>A

1 paper

NM_000138.5

p.D1155Splc

c.3464-3C>G

1 paper

NM_000138.5

p.D1155Splc

c.3464-2A>G

2 papers

NM_000138.5

p.D1155Y

c.3463G>T

2 papers

NM_000138.5

p.D1155H

c.3463G>C

27 papers

NM_000138.5

p.D1155N

c.3463G>A

5 papers

NM_000138.5

p.D1155G

c.3464A>G

1 paper

NM_000138.5

p.I1156V

c.3466A>G

1 paper

NM_000138.5

p.E1158*

c.3472G>T

1 paper

NM_000138.5

p.E1158Q

c.3472G>C

1 paper

NM_000138.5

p.E1158K

c.3472G>A

4 papers

NM_000138.5

p.E1158G

c.3473A>G