Varaico: Literature-Extracted Genetic Variants

EPB41

296 papers

RefSeq Summary

The protein encoded by this gene, together with spectrin and actin, constitute the red cell membrane cytoskeletal network. This complex plays a critical role in erythrocyte shape and deformability. Mu...

Pfam Domains

FERM_Naa 214–277UCSCFERM N-terminal domain

FERM_Maa 291–401UCSCFERM central domain

FERM_Caa 405–495UCSCFERM C-terminal PH-like domain

FAaa 499–542UCSCFERM adjacent (FA)

SABaa 667–715UCSCSAB domain

4_1_CTDaa 753–860UCSC4.1 protein C-terminal domain (CTD)

Gene Aliases

HGNC Name

erythrocyte membrane protein band 4.1

HGNC Previous Symbol

EL1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001376013.1

p.M210R

c.629T>G

Surrounding Variants

1 paper

NM_001376013.1

p.M210T

c.629T>C

1 paper

NM_001376013.1

p.M210V

c.628A>G

1 paper

NM_001376013.1

p.H211P

c.632A>C

1 paper

NM_001376013.1

p.H211R

c.632A>G

1 paper

NM_001376013.1

p.N209D

c.625A>G

8 papers

NM_001376013.1

p.V214I

c.640G>A

1 paper

NM_001376013.1

p.V214_S215insFs

c.642_643insA

1 paper

NM_001376013.1

p.E223K

c.667G>A

1 paper

NM_001376013.1

p.C224W

c.672T>G

2 papers

NM_001376013.1

p.V226G

c.677T>G

1 paper

NM_001376013.1

p.E227_K228ins11

c.681_682ins33

2 papers

NM_001376013.1

p.E183G

c.548A>G