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.D1070Splc

c.3209-2A>G

Surrounding Variants

6 papers

NM_000138.5

p.D1070H

c.3208G>C

1 paper

NM_000138.5

p.D1070Splc

c.3209-1G>A

10 papers

NM_000138.5

p.D1070G

c.3209A>G

1 paper

NM_000138.5

p.D1070A

c.3209A>C

3 papers

NM_000138.5

p.I1071V

c.3211A>G

12 papers

NM_000138.5

p.I1071S

c.3212T>G

1 paper

NM_000138.5

p.D1072N

c.3214G>A

14 papers

NM_000138.5

p.D1072G

c.3215A>G

2 papers

NM_000138.5

p.E1073*

c.3217G>T

47 papers

NM_000138.5

p.E1073K

c.3217G>A

3 papers

NM_000138.5

p.D1070Splc

c.3209-13T>A

1 paper

NM_000138.5

p.E1073G

c.3218A>G