Varaico: Literature-Extracted Genetic Variants

MAPK8IP2

65 papers

RefSeq Summary

This gene encodes a scaffold protein that is thought to be involved in the regulation of the c-Jun amino-terminal kinase signaling pathway. This protein has been shown to interact with and regulate th...

Pfam Domains

SH3_9aa 611–660UCSCVariant SH3 domain

PIDaa 683–814UCSCPhosphotyrosine interaction domain (PTB/PID)

Gene Aliases

HGNC Name

mitogen-activated protein kinase 8 interacting protein 2

HGNC Previous Symbol

PRKM8IPL

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_012324.6

p.G112fs

c.334_335fs

Surrounding Variants

1 paper

NM_012324.6

p.G108fs

c.322_323fs

1 paper

NM_012324.6

p.E103del1

c.307_308delGAG

1 paper

NM_012324.6

p.S129F

c.386C>T

1 paper

NM_012324.6

p.Q149*

c.445C>T

1 paper

NM_012324.6

p.I71_C72insFs

c.213_214insT

1 paper

NM_012324.6

p.S61C

c.182C>G

1 paper

NM_012324.6

p.D150N

c.448G>A

2 papers

NM_012324.6

p.S198S

c.594G>A

1 paper

NM_012324.6

p.E213_P214insT

c.637_641ins3

1 paper

NM_012324.6

p.G218fs

c.652_653fs

1 paper

NM_012324.6

p.R235insFs

c.704_705insG

1 paper

NM_012324.6

p.G238delFs

c.712delG