Varaico: Literature-Extracted Genetic Variants

FLNB

492 papers

RefSeq Summary

This gene encodes a member of the filamin family. The encoded protein interacts with glycoprotein Ib alpha as part of the process to repair vascular injuries. The platelet glycoprotein Ib complex incl...

Pfam Domains

CHaa 16–123UCSCCalponin homology (CH) domain

CHaa 139–243UCSCCalponin homology (CH) domain

Filaminaa 251–344UCSCFilamin/ABP280 repeat

Filaminaa 351–443UCSCFilamin/ABP280 repeat

Filaminaa 449–540UCSCFilamin/ABP280 repeat

Filaminaa 546–633UCSCFilamin/ABP280 repeat

Gene Aliases

HGNC Name

filamin B

HGNC Previous Symbols

FLN1L; LRS1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 785 variants

20 papers

NM_001457.4

p.G1691S

c.5071G>A

15 papers

NM_001457.4

p.D1157N

c.3469G>A

14 papers

NM_001457.4

p.E227K

c.679G>A

12 papers

NM_001457.4

p.M202V

c.604A>G

11 papers

NM_001457.4

p.W148R

c.442T>A

11 papers

NM_001457.4

p.W148R

c.442T>C

11 papers

NM_001457.4

p.V1471M

c.4411G>A

10 papers

NM_001457.4

p.G168S

c.502G>A

10 papers

NM_001457.4

p.S235P

c.703T>C

10 papers

NM_001457.4

p.G1586R

c.4756G>A

10 papers

NM_001457.4

p.G1586R

c.4756G>C

9 papers

NM_001457.4

p.L171R

c.512T>G