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.E50K

c.148G>A

Surrounding Variants

1 paper

NM_001376013.1

p.E50*

c.148G>T

1 paper

NM_001376013.1

p.E50A

c.149A>C

1 paper

NM_001376013.1

p.C49delFs

c.147delT

1 paper

NM_001376013.1

p.C49R

c.145T>C

1 paper

NM_001376013.1

p.Q51delFs

c.153delG

1 paper

NM_001376013.1

p.K52_L53delFs

c.155_158del4

1 paper

NM_001376013.1

p.D46E

c.138T>A

1 paper

NM_001376013.1

p.D46E

c.138T>G

1 paper

NM_001376013.1

p.D46_W48del0

c.138_143del6

1 paper

NM_001376013.1

p.K54Q

c.160A>C

1 paper

NM_001376013.1

p.D46N

c.136G>A

1 paper

NM_001376013.1

p.D46_N47delFs

c.137_141del5