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

2 papers

NM_001006617.3

p.K222M

c.665A>T

Surrounding Variants

1 paper

NM_001006617.3

p.R219R

c.657G>A

1 paper

NM_001006617.3

p.T215A

c.643A>G

1 paper

NM_001006617.3

p.L209F

c.625C>T

1 paper

NM_001006617.3

p.A199A

c.597C>T

1 paper

NM_001006617.3

p.Y180H

c.538T>C

1 paper

NM_001006617.3

p.H168Y

c.502C>T