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

12 papers

NM_000138.5

p.P1141L

c.3422C>T

Surrounding Variants

1 paper

NM_000138.5

p.P1141P

c.3423G>A

4 papers

NM_000138.5

p.C1140*

c.3420C>A

5 papers

NM_000138.5

p.C1140F

c.3419G>T

1 paper

NM_000138.5

p.C1140Y

c.3419G>A

3 papers

NM_000138.5

p.G1143D

c.3428G>A

1 paper

NM_000138.5

p.E1139Q

c.3415G>C

1 paper

NM_000138.5

p.C1138F

c.3413G>T

2 papers

NM_000138.5

p.C1138S

c.3413G>C

7 papers

NM_000138.5

p.C1138Y

c.3413G>A

1 paper

NM_000138.5

p.H1144R

c.3431A>G

2 papers

NM_000138.5

p.C1138G

c.3412T>G

4 papers

NM_000138.5

p.C1138R

c.3412T>C