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

6 papers

NM_000138.5

p.C1068G

c.3202T>G

Surrounding Variants

6 papers

NM_000138.5

p.C1068R

c.3202T>C

1 paper

NM_000138.5

p.C1068Y

c.3203G>A

3 papers

NM_000138.5

p.C1068W

c.3204C>G

1 paper

NM_000138.5

p.T1069A

c.3205A>G

1 paper

NM_000138.5

p.E1064_E1065delFs

c.3191_3194del4

1 paper

NM_000138.5

p.T1069I

c.3206C>T

4 papers

NM_000138.5

p.R1066T

c.3197G>C

1 paper

NM_000138.5

p.R1066delFs

c.3196delT

6 papers

NM_000138.5

p.D1070H

c.3208G>C

1 paper

NM_000138.5

p.D1070Splc

c.3208+1G>C

1 paper

NM_000138.5

p.D1070Splc

c.3208+1G>A

2 papers

NM_000138.5

p.D1070Splc

c.3208+2T>A