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.C1138R

c.3412T>C

Surrounding Variants

2 papers

NM_000138.5

p.C1138G

c.3412T>G

2 papers

NM_000138.5

p.C1138S

c.3412T>A

1 paper

NM_000138.5

p.C1138F

c.3413G>T

2 papers

NM_000138.5

p.C1138S

c.3413G>C

7 papers

NM_000138.5

p.C1138Y

c.3413G>A

1 paper

NM_000138.5

p.R1137L

c.3410G>T

21 papers

NM_000138.5

p.R1137P

c.3410G>C

4 papers

NM_000138.5

p.R1137H

c.3410G>A

1 paper

NM_000138.5

p.E1139Q

c.3415G>C

3 papers

NM_000138.5

p.R1137C

c.3409C>T

1 paper

NM_000138.5

p.R1137G

c.3409C>G

1 paper

NM_000138.5

p.E1133_Y1136delFs

c.3398_3408del11