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.S2709L

c.8126C>T

Surrounding Variants

1 paper

NM_000138.5

p.S2709*

c.8126C>G

1 paper

NM_000138.5

p.S2709*

c.8126C>A

1 paper

NM_000138.5

p.S2702_N2708del7

c.8104_8123del21

1 paper

NM_000138.5

p.L2710F

c.8128C>T

1 paper

NM_000138.5

p.L2710P

c.8129T>C

7 papers

NM_000138.5

p.N2708S

c.8123A>G

1 paper

NM_000138.5

p.D2707E

c.8121C>G

1 paper

NM_000138.5

p.D2707E

c.8121C>A

1 paper

NM_000138.5

p.P2712fs

c.8134_8135fs

1 paper

NM_000138.5

p.P2712fs

c.8134_8135fs

2 papers

NM_000138.5

p.P2712delFs

c.8135delG

1 paper

NM_000138.5

p.A2714S

c.8140G>T