Varaico: Literature-Extracted Genetic Variants

MAPK8IP1

140 papers

RefSeq Summary

This gene encodes a regulator of the pancreatic beta-cell function. It is highly similar to JIP-1, a mouse protein known to be a regulator of c-Jun amino-terminal kinase (Mapk8). This protein has been...

Pfam Domains

SH3_9aa 495–544UCSCVariant SH3 domain

PIDaa 567–701UCSCPhosphotyrosine interaction domain (PTB/PID)

Gene Aliases

HGNC Name

mitogen-activated protein kinase 8 interacting protein 1

HGNC Previous Symbol

PRKM8IP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005456.4

p.R324P

c.971G>C

Surrounding Variants

1 paper

NM_005456.4

p.R324Q

c.971G>A

1 paper

NM_005456.4

p.R324W

c.970C>T

1 paper

NM_005456.4

p.T321M

c.962C>T

1 paper

NM_005456.4

p.T321A

c.961A>G

1 paper

NM_005456.4

p.Y318*

c.954C>A

1 paper

NM_005456.4

p.Y318*

c.954C>G

2 papers

NM_005456.4

p.A317T

c.949G>A

1 paper

NM_005456.4

p.E334K

c.1000G>A

1 paper

NM_005456.4

p.D312H

c.934G>C

1 paper

NM_005456.4

p.V309F

c.925G>T

1 paper

NM_005456.4

p.R306L

c.917G>T

1 paper

NM_005456.4

p.R344Q

c.1031G>A