Varaico: Literature-Extracted Genetic Variants

FBN2

843 papers

RefSeq Summary

The protein encoded by this gene is a component of connective tissue microfibrils and may be involved in elastic fiber assembly. Mutations in this gene cause congenital contractural arachnodactyly. [p...

Pfam Domains

Fibrillin_U_Naa 76–112UCSCFibrillin 1 unique N-terminal domain

EGF_FBN_1staa 119–139UCSCFibrillin, first EGF domain

TBaa 223–261UCSCTB domain

EGF_CAaa 276–316UCSCCalcium-binding EGF domain

EGF_CAaa 318–358UCSCCalcium-binding EGF domain

TBaa 373–417UCSCTB domain

Gene Aliases

HGNC Name

fibrillin 2

HGNC Previous Symbol

CCA

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001999.4

p.C1406F

c.4217G>T

Surrounding Variants

1 paper

NM_001999.4

p.C1406Y

c.4217G>A

3 papers

NM_001999.4

p.C1406R

c.4216T>C

1 paper

NM_001999.4

p.C1406insFs

c.4218dupT

1 paper

NM_001999.4

p.I1404delFs

c.4212delG

2 papers

NM_001999.4

p.D1408N

c.4222G>A

2 papers

NM_001999.4

p.D1408Splc

c.4222+1G>A

1 paper

NM_001999.4

p.D1408Splc

c.4222+2T>C

1 paper

NM_001999.4

p.G1403D

c.4208G>A

3 papers

NM_001999.4

p.D1408Splc

c.4222+5G>A

3 papers

NM_001999.4

p.G1403S

c.4207G>A

1 paper

NM_001999.4

p.N1402K

c.4206C>G

1 paper

NM_001999.4

p.N1402K

c.4206C>A