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.N355H

c.1063A>C

Surrounding Variants

2 papers

NM_000119.3

p.Q377H

c.1131G>T

NM_001114134.2

p.Q347H

c.1041G>T

2 papers

NM_000119.3

p.Q377H

c.1131G>C

NM_001114134.2

p.Q347H

c.1041G>C

5 papers

NM_001114134.2

p.E317delFs

c.949delC

1 paper

NM_001114134.2

p.G316R

c.946G>C

1 paper

NM_001114134.2

p.G316R

c.946G>A

1 paper

NM_001114134.2

p.E311K

c.931G>A

1 paper

NM_001114134.2

p.T290I

c.869C>T

2 papers

NM_000119.3

p.V308L

c.922G>T

2 papers

NM_000119.3

p.V308L

c.922G>C

1 paper

NM_000119.3

p.C423insFs

c.1267_1268insG

1 paper

NM_001114134.2

p.G424R

c.1270G>C

2 papers

NM_000119.3

p.R457H

c.1370G>A

NM_001114134.2

p.R427H

c.1280G>A