Varaico: Literature-Extracted Genetic Variants

EPB41L4A

84 papers

RefSeq Summary

The protein encoded by this gene is a member of the band 4.1 protein superfamily. Members of this superfamily are thought to play an important role in regulating interactions between the cytoskeleton ...

Pfam Domains

FERM_Naa 15–83UCSCFERM N-terminal domain

FERM_Maa 101–211UCSCFERM central domain

FERM_Caa 215–303UCSCFERM C-terminal PH-like domain

FAaa 311–355UCSCFERM adjacent (FA)

Gene Aliases

HGNC Name

erythrocyte membrane protein band 4.1 like 4A

HGNC Alias Symbol

NBL4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_022140.5

p.K33_K34Splc

c.99+4926T>C

Surrounding Variants

1 paper

NM_022140.5

p.K33E

c.97A>G

1 paper

NM_022140.5

p.E9*

c.25G>T

1 paper

NM_022140.5

p.G2insFs

c.5_6ins5

1 paper

NM_022140.5

p.G2D

c.5G>A

1 paper

NM_022140.5

p.M1insFs

c.1_2ins5

2 papers

NM_022140.5

p.M1insFs

c.1_2ins5