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.E362A

c.1085A>C

Surrounding Variants

1 paper

NM_001376013.1

p.E362*

c.1084G>T

1 paper

NM_001376013.1

p.T360T

c.1080C>A

1 paper

NM_001376013.1

p.P357R

c.1070C>G

1 paper

NM_001376013.1

p.H371R

c.1112A>G

1 paper

NM_001376013.1

p.K372delFs

c.1114_1115delAA

1 paper

NM_001376013.1

p.K372fs

c.1114_1115fs

1 paper

NM_001376013.1

p.L344delins

c.1030_1031delinsTA

1 paper

NM_001376013.1

p.P342S

c.1024C>T

1 paper

NM_001376013.1

p.G338E

c.1013G>A

1 paper

NM_001376013.1

p.Q334E

c.1000C>G

1 paper

NM_001376013.1

p.G329D

c.986G>A

1 paper

NM_001376013.1

p.L328ins1

c.983_984insTGA