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

2 papers

NM_000138.5

p.A1163_H1164insFs

c.3489_3490insGC

Surrounding Variants

1 paper

NM_000138.5

p.A1163T

c.3487G>A

1 paper

NM_000138.5

p.L1165fs

c.3493_3494fs

1 paper

NM_000138.5

p.C1166G

c.3496T>G

2 papers

NM_000138.5

p.C1166R

c.3496T>C

6 papers

NM_000138.5

p.C1166Y

c.3497G>A

1 paper

NM_000138.5

p.D1155_E1160delFs

c.3464_3480del17

1 paper

NM_000138.5

p.P1167T

c.3499C>A

1 paper

NM_000138.5

p.E1160K

c.3478G>A

1 paper

NM_000138.5

p.E1160fs

c.3478_3479fs

1 paper

NM_000138.5

p.E1158_C1159delFs

c.3473_3476del4

5 papers

NM_000138.5

p.C1159F

c.3476G>T

5 papers

NM_000138.5

p.C1159Y

c.3476G>A