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.Q729*

c.2185C>T

Surrounding Variants

1 paper

NM_012156.2

p.G654D

c.1961G>A

1 paper

NM_012156.2

p.S650L

c.1949C>T

1 paper

NM_012156.2

p.S648R

c.1944C>A

1 paper

NM_012156.2

p.S648R

c.1944C>G

1 paper

NM_012156.2

p.S648R

c.1942A>C

1 paper

NM_012156.2

p.L783F

c.2347C>T

1 paper

NM_012156.2

p.L640V

c.1918C>G

1 paper

NM_012156.2

p.R638H

c.1913G>A

1 paper

NM_012156.2

p.R638C

c.1912C>T

1 paper

NM_012156.2

p.E634K

c.1900G>A

1 paper

NM_012156.2

p.A632T

c.1894G>A

1 paper

NM_012156.2

p.I625F

c.1873A>T