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.D2127G

c.6380A>G

Surrounding Variants

4 papers

NM_000138.5

p.D2127V

c.6380A>T

8 papers

NM_000138.5

p.D2127E

c.6381T>G

10 papers

NM_000138.5

p.D2127E

c.6381T>A

6 papers

NM_000138.5

p.D2127Y

c.6379G>T

2 papers

NM_000138.5

p.D2127Splc

c.6380-1G>A

1 paper

NM_000138.5

p.M2128fs

c.6382_6383fs

1 paper

NM_000138.5

p.M2128V

c.6382A>G

1 paper

NM_000138.5

p.M2128insFs

c.6382dupA

1 paper

NM_000138.5

p.D2129H

c.6385G>C

1 paper

NM_000138.5

p.D2129V

c.6386A>T

1 paper

NM_000138.5

p.D2129G

c.6386A>G

1 paper

NM_000138.5

p.E2130*

c.6388G>T