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.A55S

c.163G>T

Surrounding Variants

1 paper

NM_001376013.1

p.A55D

c.164C>A

1 paper

NM_001376013.1

p.K54R

c.161A>G

1 paper

NM_001376013.1

p.K54I

c.161A>T

1 paper

NM_001376013.1

p.K54Q

c.160A>C

1 paper

NM_001376013.1

p.N57D

c.169A>G

1 paper

NM_001376013.1

p.K52_L53delFs

c.155_158del4

1 paper

NM_001376013.1

p.G58R

c.172G>A

1 paper

NM_001376013.1

p.G58R

c.172G>C

1 paper

NM_001376013.1

p.G58insFs

c.172_173insT

1 paper

NM_001376013.1

p.N57_G58delins

c.171_172delinsTT

1 paper

NM_001376013.1

p.G58G

c.174A>C

1 paper

NM_001376013.1

p.Q51delFs

c.153delG