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.H133Q

c.399C>A

Surrounding Variants

1 paper

NM_000138.5

p.H133Q

c.399C>G

5 papers

NM_000138.5

p.C134G

c.400T>G

2 papers

NM_000138.5

p.C134R

c.400T>C

3 papers

NM_000138.5

p.C134S

c.400T>A

1 paper

NM_000138.5

p.H133delFs

c.399delG

1 paper

NM_000138.5

p.H133P

c.398A>C

3 papers

NM_000138.5

p.C134S

c.401G>C

6 papers

NM_000138.5

p.C134Y

c.401G>A

1 paper

NM_000138.5

p.C134delFs

c.400delA

1 paper

NM_000138.5

p.H133Y

c.397C>T

1 paper

NM_000138.5

p.D132D

c.396T>C

1 paper

NM_000138.5

p.D132G

c.395A>G