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

58 papers

NM_000138.5

p.R2726W

c.8176C>T

Surrounding Variants

6 papers

NM_000138.5

p.R2726fs

c.8176_8177fs

8 papers

NM_000138.5

p.K2719_K2725delFs

c.8156_8175del20

1 paper

NM_000138.5

p.R2726Q

c.8177G>A

2 papers

NM_000138.5

p.G2727S

c.8179G>A

1 paper

NM_000138.5

p.R2728G

c.8182A>G

1 paper

NM_000138.5

p.R2728T

c.8183G>C

4 papers

NM_000138.5

p.K2725_R2728delFs

c.8175_8182del8

2 papers

NM_000138.5

p.K2729Q

c.8185A>C

3 papers

NM_000138.5

p.R2730W

c.8188C>T

1 paper

NM_000138.5

p.R2730Q

c.8189G>A

2 papers

NM_000138.5

p.N2721S

c.8162A>G

1 paper

NM_000138.5

p.R2731S

c.8193A>T