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

3 papers

NM_000138.5

p.H1130R

c.3389A>G

Surrounding Variants

4 papers

NM_000138.5

p.H1130P

c.3389A>C

2 papers

NM_000138.5

p.H1130delFs

c.3388delG

1 paper

NM_000138.5

p.H1130Y

c.3388C>T

21 papers

NM_000138.5

p.N1131Y

c.3391A>T

21 papers

NM_000138.5

p.C1129Y

c.3386G>A

4 papers

NM_000138.5

p.N1131S

c.3392A>G

3 papers

NM_000138.5

p.N1131K

c.3393C>G

2 papers

NM_000138.5

p.N1131K

c.3393C>A

1 paper

NM_000138.5

p.T1132A

c.3394A>G

2 papers

NM_000138.5

p.T1132I

c.3395C>T

4 papers

NM_000138.5

p.V1128I

c.3382G>A

1 paper

NM_000138.5

p.G1127G

c.3381T>G