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

1–12 of 85 variants

4 papers

NM_022140.5

p.R630H

c.1889G>A

2 papers

NM_022140.5

p.M1insFs

c.1_2ins5

2 papers

NM_022140.5

p.F252L

c.754T>C

2 papers

NM_022140.5

p.F252L

c.756C>G

2 papers

NM_022140.5

p.F252L

c.756C>A

2 papers

NM_022140.5

p.E254E

c.762G>A

2 papers

NM_022140.5

p.Y495H

c.1483T>C

2 papers

NM_022140.5

p.M508T

c.1523T>C

2 papers

NM_022140.5

p.R534*

c.1600C>T

2 papers

NM_022140.5

p.R587L

c.1760G>T

2 papers

NM_022140.5

p.R610*

c.1828C>T

2 papers

NM_022140.5

p.D621N

c.1861G>A