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.G1134R

c.3400G>A

Surrounding Variants

2 papers

NM_000138.5

p.G1134R

c.3400G>C

1 paper

NM_000138.5

p.E1133delFs

c.3398_3399delCT

1 paper

NM_000138.5

p.E1133*

c.3397G>T

1 paper

NM_000138.5

p.E1133fs

c.3397_3398fs

1 paper

NM_000138.5

p.S1135G

c.3403A>G

2 papers

NM_000138.5

p.S1135R

c.3403A>C

2 papers

NM_000138.5

p.S1135R

c.3405T>G

2 papers

NM_000138.5

p.S1135R

c.3405T>A

2 papers

NM_000138.5

p.T1132I

c.3395C>T

1 paper

NM_000138.5

p.T1132A

c.3394A>G

3 papers

NM_000138.5

p.N1131K

c.3393C>G

2 papers

NM_000138.5

p.N1131K

c.3393C>A