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.Q1085R

c.3254A>G

Surrounding Variants

9 papers

NM_000138.5

p.C1086R

c.3256T>C

1 paper

NM_000138.5

p.C1086S

c.3256T>A

1 paper

NM_000138.5

p.G1084G

c.3252C>T

1 paper

NM_000138.5

p.G1084G

c.3252C>G

1 paper

NM_000138.5

p.G1084G

c.3252C>A

1 paper

NM_000138.5

p.G1084V

c.3251G>T

1 paper

NM_000138.5

p.C1086S

c.3257G>C

1 paper

NM_000138.5

p.G1084A

c.3251G>C

15 papers

NM_000138.5

p.C1086Y

c.3257G>A

1 paper

NM_000138.5

p.G1084D

c.3251G>A

3 papers

NM_000138.5

p.C1086W

c.3258T>G

3 papers

NM_000138.5

p.C1086*

c.3258T>A