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.G989fs

c.2965_2966fs

Surrounding Variants

2 papers

NM_000138.5

p.G989S

c.2965G>A

3 papers

NM_000138.5

p.W988*

c.2964G>A

5 papers

NM_000138.5

p.W988*

c.2963G>A

2 papers

NM_000138.5

p.W988fs

c.2962_2963fs

1 paper

NM_000138.5

p.W988_G989delFs

c.2963_2967del5

1 paper

NM_000138.5

p.E991*

c.2971G>T

1 paper

NM_000138.5

p.A987fs

c.2959_2960fs

1 paper

NM_000138.5

p.W988_E991delFs

c.2964_2971del8

1 paper

NM_000138.5

p.E991D

c.2973G>T

1 paper

NM_000138.5

p.E991D

c.2973G>C

1 paper

NM_000138.5

p.A986V

c.2957C>T

24 papers

NM_000138.5

p.A986T

c.2956G>A