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.G59G

c.177T>A

Surrounding Variants

1 paper

NM_001006617.3

p.E60Q

c.178G>C

1 paper

NM_001006617.3

p.G63D

c.188G>A

1 paper

NM_001006617.3

p.Q68H

c.204G>T

1 paper

NM_001006617.3

p.Q68H

c.204G>C

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.I72N

c.215T>A

1 paper

NM_001006617.3

p.P47S

c.139C>T

5 papers

NM_001006617.3

p.S75N

c.224G>A

2 papers

NM_001006617.3

p.R81T

c.242G>C

1 paper

NM_001006617.3

p.S84L

c.251C>T

1 paper

NM_001006617.3

p.H34H

c.102T>C