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

1–12 of 307 variants

8 papers

NM_001376013.1

p.V214I

c.640G>A

4 papers

NM_001376013.1

p.T283I

c.848C>T

4 papers

NM_001376013.1

p.G567D

c.1700G>A

3 papers

NM_001376013.1

p.S38S

c.114T>C

3 papers

NM_001376013.1

p.P90P

c.270C>A

3 papers

NM_001376013.1

p.R815C

c.2443C>T

2 papers

NM_001376013.1

p.L79P

c.236T>C

2 papers

NM_001376013.1

p.E183G

c.548A>G

2 papers

NM_001376013.1

p.V226G

c.677T>G

2 papers

NM_001376013.1

p.P291S

c.871C>T

2 papers

NM_001376013.1

p.R317H

c.950G>A

2 papers

NM_001376013.1

p.R452W

c.1354C>T