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.P236T

c.706C>A

Surrounding Variants

1 paper

NM_005456.4

p.D234V

c.701A>T

1 paper

NM_005456.4

p.D234N

c.700G>A

1 paper

NM_005456.4

p.T226P

c.676A>C

1 paper

NM_005456.4

p.P247S

c.739C>T

1 paper

NM_005456.4

p.G222S

c.664G>A

1 paper

NM_005456.4

p.Q220fs

c.658_659fs

1 paper

NM_005456.4

p.Q220delFs

c.658delC

2 papers

NM_005456.4

p.A254A

c.762C>G

1 paper

NM_005456.4

p.P255L

c.764C>T

1 paper

NM_005456.4

p.P256delFs

c.767delC

2 papers

NM_005456.4

p.P256S

c.766C>T

1 paper

NM_005456.4

p.P256fs

c.766_767fs