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

2 papers

NM_001999.4

p.R347G

c.1039C>G

Surrounding Variants

1 paper

NM_001999.4

p.R347fs

c.1039_1040fs

1 paper

NM_001999.4

p.R347C

c.1039C>T

5 papers

NM_001999.4

p.R347H

c.1040G>A

1 paper

NM_001999.4

p.P346R

c.1037C>G

1 paper

NM_001999.4

p.R347delFs

c.1041delA

1 paper

NM_001999.4

p.P346S

c.1036C>T

1 paper

NM_001999.4

p.R347_G348delFs

c.1039_1043del5

1 paper

NM_001999.4

p.V344A

c.1031T>C

1 paper

NM_001999.4

p.V344I

c.1030G>A

1 paper

NM_001999.4

p.C343S

c.1028G>C

1 paper

NM_001999.4

p.C343S

c.1027T>A

1 paper

NM_001999.4

p.S340N

c.1019G>A