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.M508T

c.1523T>C

Surrounding Variants

1 paper

NM_022140.5

p.R501_E505del0

c.1503_1514del12

1 paper

NM_022140.5

p.K523K

c.1569G>A

1 paper

NM_022140.5

p.D529Y

c.1585G>T

1 paper

NM_022140.5

p.N532S

c.1595A>G

2 papers

NM_022140.5

p.R534*

c.1600C>T

1 paper

NM_022140.5

p.R540C

c.1618C>T