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.H589Q

c.1767C>G

Surrounding Variants

1 paper

NM_001114134.2

p.H589Q

c.1767C>A

1 paper

NM_001114134.2

p.H589delFs

c.1765delG

2 papers

NM_001114134.2

p.M567I

c.1701G>A

1 paper

NM_001114134.2

p.E558K

c.1672G>A

1 paper

NM_001114134.2

p.Y601insFs

c.1801_1802insC

4 papers

NM_001114134.2

p.S613F

c.1838C>T

1 paper

NM_001114134.2

p.A616D

c.1847C>A

1 paper

NM_001114134.2

p.C621insFs

c.1862_1863insA

1 paper

NM_001114134.2

p.R638G

c.1912A>G

1 paper

NM_001114134.2

p.A537T

c.1609G>A

1 paper

NM_000119.3

p.V537insFs

c.1610dupT

1 paper

NM_001114134.2

p.T496M

c.1487C>T