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.S191T

c.572G>C

Surrounding Variants

1 paper

NM_000138.5

p.S191insFs

c.572_573ins7

1 paper

NM_000138.5

p.C186_S191delFs

c.556_571del16

1 paper

NM_000138.5

p.S191G

c.571A>G

1 paper

NM_000138.5

p.I190M

c.570C>G

1 paper

NM_000138.5

p.F187_S191del0

c.559_573del15

1 paper

NM_000138.5

p.I190N

c.569T>A

1 paper

NM_000138.5

p.V189_I190Fs

c.567_569delinsCFs

1 paper

NM_000138.5

p.Q193*

c.577C>T

1 paper

NM_000138.5

p.Q193E

c.577C>G

1 paper

NM_000138.5

p.F187_N192delFs

c.560_576del17

2 papers

NM_000138.5

p.Q193delFs

c.577delG

1 paper

NM_000138.5

p.Q193Q

c.579G>A