Varaico: Literature-Extracted Genetic Variants

EPB41L1

64 papers

RefSeq Summary

Erythrocyte membrane protein band 4.1 (EPB41) is a multifunctional protein that mediates interactions between the erythrocyte cytoskeleton and the overlying plasma membrane. The encoded protein binds ...

Pfam Domains

FERM_Naa 101–164UCSCFERM N-terminal domain

FERM_Maa 178–288UCSCFERM central domain

FERM_Caa 292–382UCSCFERM C-terminal PH-like domain

FAaa 385–428UCSCFERM adjacent (FA)

SABaa 493–544UCSCSAB domain

4_1_CTDaa 773–867UCSC4.1 protein C-terminal domain (CTD)

Gene Aliases

HGNC Name

erythrocyte membrane protein band 4.1 like 1

HGNC Alias Symbols

KIAA0338; 4.1N

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_012156.2

p.H37H

c.111C>T

Surrounding Variants

1 paper

NM_012156.2

p.G38S

c.112G>A

1 paper

NM_012156.2

p.A27T

c.79G>A

1 paper

NM_012156.2

p.A26P

c.76G>C

1 paper

NM_012156.2

p.E4D

c.12G>C

1 paper

NM_012156.2

p.E4D

c.12G>T

1 paper

NM_012156.2

p.D72G

c.215A>G

1 paper

NM_012156.2

p.S75S

c.225G>A

1 paper

NM_012156.2

p.C99Y

c.296G>A

1 paper

NM_012156.2

p.V101L

c.301G>C

1 paper

NM_012156.2

p.E134G

c.401A>G

1 paper

NM_012156.2

p.K160R

c.479A>G

1 paper

NM_012156.2

p.W167*

c.500G>A