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.V409V

c.1227A>T

Surrounding Variants

1 paper

NM_001376013.1

p.D410Y

c.1228G>T

1 paper

NM_001376013.1

p.G408R

c.1222G>A

1 paper

NM_001376013.1

p.I411T

c.1232T>C

1 paper

NM_001376013.1

p.E407_G408insFs

c.1221_1222insG

1 paper

NM_001376013.1

p.I411M

c.1233C>G

1 paper

NM_001376013.1

p.D405E

c.1215C>A

1 paper

NM_001376013.1

p.D405E

c.1215C>G

1 paper

NM_001376013.1

p.D405A

c.1214A>C

1 paper

NM_001376013.1

p.G414D

c.1241G>A

1 paper

NM_001376013.1

p.K404_D405Splc

c.1213-4T>G

1 paper

NM_001376013.1

p.V422I

c.1264G>A

1 paper

NM_001376013.1

p.Y423Y

c.1269C>T