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

1–12 of 75 variants

5 papers

NM_001114134.2

p.E317delFs

c.949delC

4 papers

NM_001114134.2

p.S613F

c.1838C>T

2 papers

NM_001114134.2

p.D11A

c.32A>C

2 papers

NM_001114134.2

p.Q13H

c.39G>T

2 papers

NM_000119.3

p.T138I

c.413C>T

2 papers

NM_000119.3

p.V308L

c.922G>C

2 papers

NM_000119.3

p.V308L

c.922G>T

2 papers

NM_000119.3

p.V308L

c.922G>C

2 papers

NM_001114134.2

p.M567I

c.1701G>A

1 paper

NM_001114134.2

p.G2A

c.5G>C

1 paper

NM_000119.3

p.G29*

c.85G>T

1 paper

NM_001114134.2

p.H22R

c.65A>G