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.C129G

c.385T>G

Surrounding Variants

2 papers

NM_000138.5

p.C129R

c.385T>C

1 paper

NM_000138.5

p.C129S

c.385T>A

2 papers

NM_000138.5

p.C129F

c.386G>T

1 paper

NM_000138.5

p.C129S

c.386G>C

18 papers

NM_000138.5

p.C129Y

c.386G>A

1 paper

NM_000138.5

p.S128S

c.384C>T

1 paper

NM_000138.5

p.S128N

c.383G>A

1 paper

NM_000138.5

p.S130fs

c.388_389fs

1 paper

NM_000138.5

p.S128G

c.382A>G

2 papers

NM_000138.5

p.G127D

c.380G>A

1 paper

NM_000138.5

p.G127delins

c.379_380delinsTT

2 papers

NM_000138.5

p.S130delFs

c.390delA