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.A42_A43del1

c.125_127delCAG

Surrounding Variants

1 paper

NM_001376013.1

p.Q40*

c.118C>T

1 paper

NM_001376013.1

p.A43delFs

c.127delG

1 paper

NM_001376013.1

p.C39Y

c.116G>A

1 paper

NM_001376013.1

p.A43T

c.127G>A

1 paper

NM_001376013.1

p.A43P

c.127G>C

1 paper

NM_001376013.1

p.A43delFs

c.129delT

3 papers

NM_001376013.1

p.S38S

c.114T>C

1 paper

NM_001376013.1

p.E44delFs

c.130_131delGA

1 paper

NM_001376013.1

p.G45delFs

c.134delG

1 paper

NM_001376013.1

p.G45R

c.133G>A

1 paper

NM_001376013.1

p.G45R

c.133G>C

1 paper

NM_001376013.1

p.G45E

c.134G>A