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

124 papers

NM_000138.5

p.C1039G

c.3115T>G

Surrounding Variants

12 papers

NM_000138.5

p.C1039Y

c.3116G>A

3 papers

NM_000138.5

p.L1038F

c.3112C>T

1 paper

NM_000138.5

p.C1039_T1040del2

c.3115_3119del6

1 paper

NM_000138.5

p.H1041H

c.3123C>T

1 paper

NM_000138.5

p.H1041Q

c.3123C>G

1 paper

NM_000138.5

p.H1041Q

c.3123C>A

1 paper

NM_000138.5

p.G1042C

c.3124G>T

4 papers

NM_000138.5

p.G1042R

c.3124G>C

4 papers

NM_000138.5

p.G1042S

c.3124G>A

1 paper

NM_000138.5

p.H1041delFs

c.3123delG

1 paper

NM_000138.5

p.G1042V

c.3125G>T

1 paper

NM_000138.5

p.G1042A

c.3125G>C