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.Y495H

c.1483T>C

Surrounding Variants

1 paper

NM_022140.5

p.N492N

c.1476T>C

1 paper

NM_022140.5

p.R479G

c.1435C>G

1 paper

NM_022140.5

p.R459Splc

c.1377-146A>G

1 paper

NM_022140.5

p.G447fs

c.1339_1340fs

1 paper

NM_022140.5

p.G447delFs

c.1340delC

1 paper

NM_022140.5

p.R442*

c.1324C>T

1 paper

NM_022140.5

p.R442G

c.1324C>G

1 paper

NM_022140.5

p.Y438H

c.1312T>C

1 paper

NM_022140.5

p.S433L

c.1298C>T

1 paper

NM_022140.5

p.K432Fs

c.1296delinsTGFs

1 paper

NM_022140.5

p.P427P

c.1281C>G

1 paper

NM_022140.5

p.S421Splc

c.1263-40A>G