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.K1392Q

c.4174A>C

Surrounding Variants

1 paper

NM_001999.4

p.F1391delFs

c.4173delG

2 papers

NM_001999.4

p.C1393G

c.4177T>G

1 paper

NM_001999.4

p.E1397*

c.4189G>T

1 paper

NM_001999.4

p.E1397_G1398del2

c.4189_4193del6

5 papers

NM_001999.4

p.C1384F

c.4151G>T

4 papers

NM_001999.4

p.C1384Y

c.4151G>A

1 paper

NM_001999.4

p.N1402K

c.4206C>G

1 paper

NM_001999.4

p.N1402K

c.4206C>A

3 papers

NM_001999.4

p.G1403S

c.4207G>A

8 papers

NM_001999.4

p.H1381N

c.4141C>A

1 paper

NM_001999.4

p.M1380I

c.4140G>T

1 paper

NM_001999.4

p.M1380I

c.4140G>C