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.V274D

c.821T>A

Surrounding Variants

1 paper

NM_001114134.2

p.V274A

c.821T>C

2 papers

NM_000119.3

p.V308L

c.922G>C

1 paper

NM_001114134.2

p.Q267K

c.799C>A

1 paper

NM_001114134.2

p.Y264C

c.791A>G

1 paper

NM_000119.3

p.R276Q

c.827G>A

1 paper

NM_001114134.2

p.R245H

c.734G>A

1 paper

NM_001114134.2

p.Q234R

c.701A>G

1 paper

NM_001114134.2

p.F221L

c.663T>A

2 papers

NM_000119.3

p.V308L

c.922G>T

2 papers

NM_000119.3

p.V308L

c.922G>C

1 paper

NM_001114134.2

p.T290I

c.869C>T

1 paper

NM_001114134.2

p.E311K

c.931G>A