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.Y1178H

c.3532T>C

Surrounding Variants

1 paper

NM_000138.5

p.K1177N

c.3531G>T

1 paper

NM_000138.5

p.K1177N

c.3531G>C

7 papers

NM_000138.5

p.Y1178C

c.3533A>G

1 paper

NM_000138.5

p.Y1178*

c.3534T>G

1 paper

NM_000138.5

p.Y1178*

c.3534T>A

1 paper

NM_000138.5

p.Q1179fs

c.3535_3536fs

1 paper

NM_000138.5

p.K1177fs

c.3529_3530fs

1 paper

NM_000138.5

p.G1176delFs

c.3528delC

4 papers

NM_000138.5

p.Q1179delFs

c.3536delT

1 paper

NM_000138.5

p.C1180G

c.3538T>G

1 paper

NM_000138.5

p.C1180R

c.3538T>C

2 papers

NM_000138.5

p.G1176R

c.3526G>C