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

1–12 of 113 variants

8 papers

NM_005456.4

p.S59N

c.176G>A

4 papers

NM_005456.4

p.P301L

c.902C>T

3 papers

NM_005456.4

p.V622I

c.1864G>A

2 papers

NM_005456.4

p.R69P

c.206G>C

2 papers

NM_005456.4

p.A254A

c.762C>G

2 papers

NM_005456.4

p.P256S

c.766C>T

2 papers

NM_005456.4

p.A317T

c.949G>A

2 papers

NM_005456.4

p.R353insFs

c.1057_1058ins10

2 papers

NM_005456.4

p.L374P

c.1121T>C

1 paper

NM_005456.4

p.G7A

c.20G>C

1 paper

NM_005456.4

p.G10delFs

c.29delG

1 paper

NM_005456.4

p.G10fs

c.28_29fs