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.Q308H

c.924G>T

Surrounding Variants

1 paper

NM_001376013.1

p.Q308H

c.924G>C

1 paper

NM_001376013.1

p.R310W

c.928C>T

1 paper

NM_001376013.1

p.Y303_G316del14

c.907_947del42

1 paper

NM_001376013.1

p.R317C

c.949C>T

2 papers

NM_001376013.1

p.R317H

c.950G>A

1 paper

NM_001376013.1

p.L318Q

c.953T>A

1 paper

NM_001376013.1

p.A323T

c.967G>A

1 paper

NM_001376013.1

p.L328ins1

c.983_984insTGA

1 paper

NM_001376013.1

p.G329D

c.986G>A

1 paper

NM_001376013.1

p.Q334E

c.1000C>G

1 paper

NM_001376013.1

p.G338E

c.1013G>A

1 paper

NM_001376013.1

p.P342S

c.1024C>T