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.R2731S

c.8193A>T

Surrounding Variants

1 paper

NM_000138.5

p.R2731S

c.8193A>C

1 paper

NM_000138.5

p.S2732T

c.8195G>C

1 paper

NM_000138.5

p.R2730Q

c.8189G>A

3 papers

NM_000138.5

p.R2730W

c.8188C>T

1 paper

NM_000138.5

p.T2733R

c.8198C>G

3 papers

NM_000138.5

p.N2734D

c.8200A>G

2 papers

NM_000138.5

p.K2729Q

c.8185A>C

1 paper

NM_000138.5

p.N2734T

c.8201A>C

2 papers

NM_000138.5

p.N2734N

c.8202C>T

1 paper

NM_000138.5

p.R2728T

c.8183G>C

1 paper

NM_000138.5

p.E2735K

c.8203G>A

4 papers

NM_000138.5

p.K2725_R2728delFs

c.8175_8182del8