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.T1069I

c.3206C>T

Surrounding Variants

1 paper

NM_000138.5

p.T1069A

c.3205A>G

6 papers

NM_000138.5

p.D1070H

c.3208G>C

3 papers

NM_000138.5

p.C1068W

c.3204C>G

1 paper

NM_000138.5

p.D1070Splc

c.3208+1G>C

1 paper

NM_000138.5

p.D1070Splc

c.3208+1G>A

1 paper

NM_000138.5

p.C1068Y

c.3203G>A

6 papers

NM_000138.5

p.C1068G

c.3202T>G

6 papers

NM_000138.5

p.C1068R

c.3202T>C

2 papers

NM_000138.5

p.D1070Splc

c.3208+2T>A

1 paper

NM_000138.5

p.R1054_D1070delFs

c.3162_3208del47

4 papers

NM_000138.5

p.D1070Splc

c.3208+5G>T

1 paper

NM_000138.5

p.D1070Splc

c.3208+5G>A