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.I126_I127insFs

c.378_379ins5

Surrounding Variants

1 paper

NM_001376013.1

p.E125_I127del3

c.373_380del9

1 paper

NM_001376013.1

p.I127I

c.381T>C

1 paper

NM_001376013.1

p.I127_L128ins1

c.381_382insATC

1 paper

NM_001376013.1

p.E124delFs

c.371_372delAA

1 paper

NM_001376013.1

p.D123V

c.368A>T

1 paper

NM_001376013.1

p.L122L

c.366T>A

1 paper

NM_001376013.1

p.A130_P131del2

c.388_392del6

1 paper

NM_001376013.1

p.A130T

c.388G>A

1 paper

NM_001376013.1

p.G119A

c.356G>C

1 paper

NM_001376013.1

p.P137_T141del5

c.409_422del15

1 paper

NM_001376013.1

p.E138delFs

c.412delG

1 paper

NM_001376013.1

p.E138_P143del6

c.412_428del18