Varaico: Literature-Extracted Genetic Variants

MAPKAP1

118 papers

RefSeq Summary

This gene encodes a protein that is highly similar to the yeast SIN1 protein, a stress-activated protein kinase. Alternatively spliced transcript variants encoding distinct isoforms have been describe...

Pfam Domains

SIN1aa 18–129UCSCStress-activated map kinase interacting protein 1 (SIN1)

CRIMaa 139–276UCSCSAPK-interacting protein 1 (Sin1), middle CRIM domain

RBD_SIN1aa 286–353UCSCSIN1 Ras-binding domain

SIN1_PHaa 381–488UCSCSAPK-interacting protein 1 (Sin1), Pleckstrin-homology

Gene Aliases

HGNC Name

MAPK associated protein 1

HGNC Alias Symbols

MGC2745; SIN1; MIP1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001006617.3

p.D33ins1

c.98_99insATT

Surrounding Variants

1 paper

NM_001006617.3

p.H34H

c.102T>C

1 paper

NM_001006617.3

p.D33A

c.98A>C

1 paper

NM_001006617.3

p.M29K

c.86T>A

1 paper

NM_001006617.3

p.P47S

c.139C>T

1 paper

NM_001006617.3

p.G48R

c.142G>C

1 paper

NM_001006617.3

p.G48R

c.142G>A

1 paper

NM_001006617.3

p.G59G

c.177T>A

1 paper

NM_001006617.3

p.E60Q

c.178G>C

1 paper

NM_001006617.3

p.T8A

c.22A>G

1 paper

NM_001006617.3

p.G63D

c.188G>A

1 paper

NM_001006617.3

p.F3Y

c.8T>A

1 paper

NM_001006617.3

p.M1I

c.3G>A