Varaico: Literature-Extracted Genetic Variants

EPB41L1

64 papers

RefSeq Summary

Erythrocyte membrane protein band 4.1 (EPB41) is a multifunctional protein that mediates interactions between the erythrocyte cytoskeleton and the overlying plasma membrane. The encoded protein binds ...

Pfam Domains

FERM_Naa 101–164UCSCFERM N-terminal domain

FERM_Maa 178–288UCSCFERM central domain

FERM_Caa 292–382UCSCFERM C-terminal PH-like domain

FAaa 385–428UCSCFERM adjacent (FA)

SABaa 493–544UCSCSAB domain

4_1_CTDaa 773–867UCSC4.1 protein C-terminal domain (CTD)

Gene Aliases

HGNC Name

erythrocyte membrane protein band 4.1 like 1

HGNC Alias Symbols

KIAA0338; 4.1N

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_012156.2

p.R455delFs

c.1364delG

Surrounding Variants

1 paper

NM_012156.2

p.R455fs

c.1363_1364fs

2 papers

NM_012156.2

p.K454K

c.1362G>A

1 paper

NM_012156.2

p.G462W

c.1384G>T

1 paper

NM_012156.2

p.E469Q

c.1405G>C

1 paper

NM_012156.2

p.K493N

c.1479G>C

1 paper

NM_012156.2

p.L409V

c.1225C>G

1 paper

NM_012156.2

p.R394Q

c.1181G>A

1 paper

NM_012156.2

p.I526L

c.1576A>C

1 paper

NM_012156.2

p.L538M

c.1612C>A

1 paper

NM_012156.2

p.A543P

c.1627G>C

1 paper

NM_012156.2

p.S544T

c.1630T>A

1 paper

NM_012156.2

p.S546T

c.1636T>A