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.E4D

c.12G>C

Surrounding Variants

1 paper

NM_001376013.1

p.E4Fs

c.10delinsTATAGCTGTTATATAAAATTATTTAAFs

1 paper

NM_001376013.1

p.E4delFs

c.11delA

1 paper

NM_001376013.1

p.T3insFs

c.7dupA

1 paper

NM_001376013.1

p.T2R

c.5C>G

1 paper

NM_001376013.1

p.L7V

c.19T>G

1 paper

NM_001376013.1

p.T2S

c.4A>T

1 paper

NM_001376013.1

p.M1T

c.2T>C

1 paper

NM_001376013.1

p.V8insFs

c.23_24insA

1 paper

NM_001376013.1

p.E10delFs

c.28delG

1 paper

NM_001376013.1

p.A11_Q15delFs

c.31_44del14

1 paper

NM_001376013.1

p.A11_E23delFs

c.31_68del38

1 paper

NM_001376013.1

p.E12insFs

c.35dupA