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

2 papers

NM_001376013.1

p.P291S

c.871C>T

Surrounding Variants

1 paper

NM_001376013.1

p.K287T

c.860A>C

1 paper

NM_004437.4

p.F75L

c.225T>A

1 paper

NM_004437.4

p.F75L

c.225T>G

1 paper

NM_004437.4

p.F75L

c.223T>C

1 paper

NM_001376013.1

p.D299_I300del2

c.895_899del6

4 papers

NM_001376013.1

p.T283I

c.848C>T

1 paper

NM_001376013.1

p.G277D

c.830G>A

1 paper

NM_001376013.1

p.Y303_G316del14

c.907_947del42

1 paper

NM_001376013.1

p.Q308H

c.924G>C

1 paper

NM_001376013.1

p.Q308H

c.924G>T

1 paper

NM_001376013.1

p.R310W

c.928C>T

1 paper

NM_001376013.1

p.R317C

c.949C>T