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.C1246G

c.3736T>G

Surrounding Variants

3 papers

NM_001999.4

p.C1246F

c.3737G>T

1 paper

NM_001999.4

p.C1246Y

c.3737G>A

3 papers

NM_001999.4

p.M1247T

c.3740T>C

1 paper

NM_001999.4

p.I1243T

c.3728T>C

1 paper

NM_001999.4

p.D1242fs

c.3724_3725fs

1 paper

NM_001999.4

p.N1250D

c.3748A>G

2 papers

NM_001999.4

p.D1242Splc

c.3725-3C>G

1 paper

NM_001999.4

p.G1251R

c.3751G>C

1 paper

NM_001999.4

p.G1251R

c.3751G>A

1 paper

NM_001999.4

p.G1251E

c.3752G>A

1 paper

NM_001999.4

p.G1252D

c.3755G>A

3 papers

NM_001999.4

p.C1253Y

c.3758G>A