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

2 papers

NM_022140.5

p.F252L

c.756C>A

Surrounding Variants

2 papers

NM_022140.5

p.F252L

c.756C>G

2 papers

NM_022140.5

p.F252L

c.754T>C

2 papers

NM_022140.5

p.E254E

c.762G>A

1 paper

NM_022140.5

p.V230G

c.689T>G

1 paper

NM_022140.5

p.G229V

c.686G>T

1 paper

NM_022140.5

p.D209A

c.626A>C

1 paper

NM_022140.5

p.M205V

c.613A>G

1 paper

NM_022140.5

p.P167_Q169delFs

c.501_505del5

1 paper

NM_022140.5

p.Y163Y

c.489C>T

1 paper

NM_022140.5

p.Q144H

c.432G>T

1 paper

NM_022140.5

p.A140_Y141delFs

c.420_421delAC

1 paper

NM_022140.5

p.V132I

c.394G>A