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.W167*

c.500G>A

Surrounding Variants

1 paper

NM_012156.2

p.W167*

c.501G>A

1 paper

NM_012156.2

p.A170A

c.510C>A

1 paper

NM_012156.2

p.R189Splc

c.566+31C>G

1 paper

NM_012156.2

p.L192M

c.574C>A

1 paper

NM_012156.2

p.R204W

c.610C>T

1 paper

NM_012156.2

p.Q221E

c.661C>G

1 paper

NM_012156.2

p.Y227C

c.680A>G

1 paper

NM_012156.2

p.E239*

c.715G>T

1 paper

NM_012156.2

p.K160R

c.479A>G

1 paper

NM_012156.2

p.E134G

c.401A>G

1 paper

NM_012156.2

p.G284E

c.851G>A

1 paper

NM_012156.2

p.G301C

c.901G>T