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

3 papers

NM_000138.5

p.C1097Y

c.3290G>A

Surrounding Variants

1 paper

NM_000138.5

p.C1097F

c.3290G>T

1 paper

NM_000138.5

p.C1097G

c.3289T>G

2 papers

NM_000138.5

p.C1097R

c.3289T>C

11 papers

NM_000138.5

p.D1098D

c.3294C>T

1 paper

NM_000138.5

p.E1099*

c.3295G>T

2 papers

NM_000138.5

p.E1099K

c.3295G>A

4 papers

NM_000138.5

p.C1095*

c.3285C>A

1 paper

NM_000138.5

p.G1100R

c.3298G>C

7 papers

NM_000138.5

p.G1100V

c.3299G>T

2 papers

NM_000138.5

p.G1100D

c.3299G>A

1 paper

NM_000138.5

p.F1093delFs

c.3279delA

1 paper

NM_000138.5

p.F1093fs

c.3277_3278fs