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

4 papers

NM_000138.5

p.C1182W

c.3546C>G

Surrounding Variants

1 paper

NM_000138.5

p.C1180_A1181del2

c.3538_3542del6

2 papers

NM_000138.5

p.C1182F

c.3545G>T

8 papers

NM_000138.5

p.C1182S

c.3545G>C

4 papers

NM_000138.5

p.C1182Y

c.3545G>A

1 paper

NM_000138.5

p.N1183D

c.3547A>G

1 paper

NM_000138.5

p.C1182delFs

c.3545_3546delGC

3 papers

NM_000138.5

p.C1182G

c.3544T>G

1 paper

NM_000138.5

p.C1182R

c.3544T>C

7 papers

NM_000138.5

p.C1182S

c.3544T>A

1 paper

NM_000138.5

p.Q1179_A1181del3

c.3535_3542del9

1 paper

NM_000138.5

p.C1182fs

c.3544_3545fs

1 paper

NM_000138.5

p.A1181V

c.3542C>T