Varaico: Literature-Extracted Genetic Variants

EPB42

105 papers

RefSeq Summary

Erythrocyte membrane protein band 4.2 is an ATP-binding protein which may regulate the association of protein 3 with ankyrin. It probably has a role in erythrocyte shape and mechanical property regula...

Pfam Domains

Transglut_Naa 8–124UCSCTransglutaminase family

Transglut_coreaa 224–351UCSCTransglutaminase-like superfamily

Transglut_Caa 475–580UCSCTransglutaminase family, C-terminal ig like domain

Transglut_Caa 588–686UCSCTransglutaminase family, C-terminal ig like domain

Gene Aliases

HGNC Name

erythrocyte membrane protein band 4.2

HGNC Alias Symbols

MGC116735; MGC116737

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001114134.2

p.K24R

c.71A>G

Surrounding Variants

1 paper

NM_001114134.2

p.H22delFs

c.65delT

1 paper

NM_001114134.2

p.H22R

c.65A>G

1 paper

NM_001114134.2

p.R30H

c.89G>A

2 papers

NM_001114134.2

p.Q13H

c.39G>T

2 papers

NM_001114134.2

p.D11A

c.32A>C

1 paper

NM_001114134.2

p.R46H

c.137G>A

1 paper

NM_001114134.2

p.R46delFs

c.137delC

1 paper

NM_001114134.2

p.A47G

c.140C>G

1 paper

NM_001114134.2

p.R50C

c.148C>T

1 paper

NM_001114134.2

p.A77V

c.230C>T

1 paper

NM_001114134.2

p.P80fs

c.238_239fs

1 paper

NM_001114134.2

p.D98N

c.292G>A