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.C1053W

c.3159C>G

Surrounding Variants

1 paper

NM_000138.5

p.C1053*

c.3159C>A

1 paper

NM_000138.5

p.C1053S

c.3158G>C

3 papers

NM_000138.5

p.C1053Y

c.3158G>A

1 paper

NM_000138.5

p.C1053G

c.3157T>G

13 papers

NM_000138.5

p.C1053R

c.3157T>C

1 paper

NM_000138.5

p.C1053S

c.3157T>A

10 papers

NM_000138.5

p.C1055G

c.3163T>G

1 paper

NM_000138.5

p.C1055S

c.3163T>A

1 paper

NM_000138.5

p.K1052T

c.3155A>C

1 paper

NM_000138.5

p.F1051_K1052delFs

c.3153_3154delTA

1 paper

NM_000138.5

p.C1055S

c.3164G>C

5 papers

NM_000138.5

p.C1055Y

c.3164G>A