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

2 papers

NM_000119.3

p.R457H

c.1370G>A

NM_001114134.2

p.R427H

c.1280G>A

Surrounding Variants

1 paper

NM_001114134.2

p.G424R

c.1270G>C

1 paper

NM_001114134.2

p.Y435*

c.1305C>G

1 paper

NM_001114134.2

p.Y435*

c.1305C>A

1 paper

NM_000119.3

p.C423insFs

c.1267_1268insG

1 paper

NM_000119.3

p.R488R

c.1464T>G

2 papers

NM_000119.3

p.G493S

c.1477G>A

NM_001114134.2

p.G463S

c.1387G>A

1 paper

NM_001114134.2

p.K480N

c.1440A>T

1 paper

NM_001114134.2

p.K480N

c.1440A>C

1 paper

NM_001114134.2

p.T496M

c.1487C>T

1 paper

NM_000119.3

p.V537insFs

c.1610dupT

1 paper

NM_001114134.2

p.A537T

c.1609G>A

1 paper

NM_001114134.2

p.N355H

c.1063A>C