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.E75K

c.223G>A

Surrounding Variants

1 paper

NM_001376013.1

p.S74A

c.220T>G

1 paper

NM_001376013.1

p.S76N

c.227G>A

1 paper

NM_001376013.1

p.R77K

c.230G>A

1 paper

NM_001376013.1

p.R72Q

c.215G>A

1 paper

NM_001376013.1

p.E71A

c.212A>C

1 paper

NM_001376013.1

p.L79delFs

c.236_237delTT

1 paper

NM_001376013.1

p.E71Q

c.211G>C

1 paper

NM_001376013.1

p.E71*

c.211G>T

2 papers

NM_001376013.1

p.L79P

c.236T>C

1 paper

NM_001376013.1

p.R81*

c.241C>T

1 paper

NM_001376013.1

p.L82L

c.246A>G

1 paper

NM_001376013.1

p.D65E

c.195C>A