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.D1062Y

c.3184G>T

Surrounding Variants

1 paper

NM_000138.5

p.D1062N

c.3184G>A

2 papers

NM_000138.5

p.L1061V

c.3181C>G

2 papers

NM_000138.5

p.S1063C

c.3188C>G

2 papers

NM_000138.5

p.S1063delFs

c.3189delA

4 papers

NM_000138.5

p.E1064delFs

c.3192delT

3 papers

NM_000138.5

p.G1058_F1059ins1

c.3174_3175insTGC

1 paper

NM_000138.5

p.E1065G

c.3194A>G

2 papers

NM_000138.5

p.E1065delFs

c.3193delC

4 papers

NM_000138.5

p.G1058V

c.3173G>T

2 papers

NM_000138.5

p.G1058D

c.3173G>A

2 papers

NM_000138.5

p.G1058R

c.3172G>C

4 papers

NM_000138.5

p.R1066T

c.3197G>C