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.R601C

c.1801C>T

Surrounding Variants

2 papers

NM_022140.5

p.R610*

c.1828C>T

2 papers

NM_022140.5

p.R587L

c.1760G>T

2 papers

NM_022140.5

p.D621N

c.1861G>A

1 paper

NM_022140.5

p.V623I

c.1867G>A

4 papers

NM_022140.5

p.R630H

c.1889G>A

1 paper

NM_022140.5

p.E551D

c.1653G>T

1 paper

NM_022140.5

p.E551D

c.1653G>C

1 paper

NM_022140.5

p.D545D

c.1635T>C

1 paper

NM_022140.5

p.Q644_R645Splc

c.1933-1G>A

1 paper

NM_022140.5

p.R645insFs

c.1933_1934ins5

1 paper

NM_022140.5

p.T673I

c.2018C>T