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.G1169G

c.3507C>G

Surrounding Variants

1 paper

NM_000138.5

p.G1169G

c.3507C>T

1 paper

NM_000138.5

p.G1169G

c.3507C>A

2 papers

NM_000138.5

p.G1169V

c.3506G>T

1 paper

NM_000138.5

p.G1169A

c.3506G>C

1 paper

NM_000138.5

p.G1169D

c.3506G>A

2 papers

NM_000138.5

p.R1170C

c.3508C>T

1 paper

NM_000138.5

p.G1169R

c.3505G>C

37 papers

NM_000138.5

p.R1170H

c.3509G>A

1 paper

NM_000138.5

p.G1169S

c.3505G>A

10 papers

NM_000138.5

p.C1171R

c.3511T>C

1 paper

NM_000138.5

p.G1169_R1170del2

c.3505_3509del6

6 papers

NM_000138.5

p.N1168S

c.3503A>G