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.P360fs

c.1078_1079fs

Surrounding Variants

1 paper

NM_005456.4

p.E358K

c.1072G>A

2 papers

NM_005456.4

p.R353insFs

c.1057_1058ins10

1 paper

NM_005456.4

p.R353fs

c.1057_1058fs

2 papers

NM_005456.4

p.L374P

c.1121T>C

1 paper

NM_005456.4

p.S375P

c.1123T>C

1 paper

NM_005456.4

p.R344Q

c.1031G>A

1 paper

NM_005456.4

p.D377N

c.1129G>A

1 paper

NM_005456.4

p.S378C

c.1133C>G

1 paper

NM_005456.4

p.E334K

c.1000G>A

1 paper

NM_005456.4

p.H388Y

c.1162C>T

1 paper

NM_005456.4

p.R324Q

c.971G>A

1 paper

NM_005456.4

p.R324P

c.971G>C