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

3 papers

NM_000138.5

p.C2592S

c.7775G>C

Surrounding Variants

1 paper

NM_000138.5

p.C2592F

c.7775G>T

2 papers

NM_000138.5

p.C2592Y

c.7775G>A

4 papers

NM_000138.5

p.C2592S

c.7774T>A

1 paper

NM_000138.5

p.P2593T

c.7777C>A

1 paper

NM_000138.5

p.Q2594fs

c.7780_7781fs

1 paper

NM_000138.5

p.Q2594*

c.7780C>T

1 paper

NM_000138.5

p.C2590fs

c.7768_7769fs

3 papers

NM_000138.5

p.C2590Y

c.7769G>A

1 paper

NM_000138.5

p.Q2594delFs

c.7780delG

1 paper

NM_000138.5

p.C2590insFs

c.7768_7769insC

1 paper

NM_000138.5

p.C2590R

c.7768T>C

3 papers

NM_000138.5

p.G2595S

c.7783G>A