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.S491N

c.1472G>A

Surrounding Variants

1 paper

NM_001006617.3

p.R494Q

c.1481G>A

1 paper

NM_001006617.3

p.K501R

c.1502A>G

1 paper

NM_001006617.3

p.K501T

c.1502A>C

1 paper

NM_001006617.3

p.G520A

c.1559G>C

1 paper

NM_001006617.3

p.A472T

c.1414G>A

1 paper

NM_001006617.3

p.T456M

c.1367C>T

1 paper

NM_001006617.3

p.K454T

c.1361A>C

1 paper

NM_001006617.3

p.A451T

c.1351G>A