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.A803A

c.2409C>T

Surrounding Variants

1 paper

NM_001999.4

p.A803V

c.2408C>T

2 papers

NM_001999.4

p.S804C

c.2411C>G

1 paper

NM_001999.4

p.Y799C

c.2396A>G

1 paper

NM_001999.4

p.G798D

c.2393G>A

1 paper

NM_001999.4

p.S797N

c.2390G>A

1 paper

NM_001999.4

p.D810Splc

c.2428+6T>A

1 paper

NM_001999.4

p.C795F

c.2384G>T

1 paper

NM_001999.4

p.R792C

c.2374C>T

1 paper

NM_001999.4

p.G789R

c.2365G>C

1 paper

NM_001999.4

p.N786S

c.2357A>G

1 paper

NM_001999.4

p.N786Y

c.2356A>T

1 paper

NM_001999.4

p.N781S

c.2342A>G