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.Y2600*

c.7800C>G

Surrounding Variants

2 papers

NM_000138.5

p.Y2600*

c.7800C>A

3 papers

NM_000138.5

p.Q2601*

c.7801C>T

1 paper

NM_000138.5

p.Y2600H

c.7798T>C

1 paper

NM_000138.5

p.Q2601R

c.7802A>G

1 paper

NM_000138.5

p.W2602*

c.7805G>A

1 paper

NM_000138.5

p.W2602C

c.7806G>T

1 paper

NM_000138.5

p.W2602C

c.7806G>C

1 paper

NM_000138.5

p.W2602*

c.7806G>A

1 paper

NM_000138.5

p.N2603D

c.7807A>G

1 paper

NM_000138.5

p.Q2598insFs

c.7792dupC

1 paper

NM_000138.5

p.Q2598delFs

c.7792delG

1 paper

NM_000138.5

p.Q2598fs

c.7792_7793fs