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

3 papers

NM_001999.4

p.G355D

c.1064G>A

Surrounding Variants

1 paper

NM_001999.4

p.R357delFs

c.1070delC

1 paper

NM_001999.4

p.C358S

c.1072T>A

1 paper

NM_001999.4

p.C358S

c.1073G>C

1 paper

NM_001999.4

p.I359F

c.1075A>T

2 papers

NM_001999.4

p.I359M

c.1077C>G

1 paper

NM_001999.4

p.D360N

c.1078G>A

1 paper

NM_001999.4

p.D360Splc

c.1078+1G>A

1 paper

NM_001999.4

p.R347_G348delFs

c.1039_1043del5

1 paper

NM_001999.4

p.R347delFs

c.1041delA

5 papers

NM_001999.4

p.R347H

c.1040G>A

1 paper

NM_001999.4

p.R347fs

c.1039_1040fs

1 paper

NM_001999.4

p.R347C

c.1039C>T