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

2 papers

NM_005456.4

p.R69P

c.206G>C

Surrounding Variants

1 paper

NM_005456.4

p.L66L

c.196C>T

8 papers

NM_005456.4

p.S59N

c.176G>A

1 paper

NM_005456.4

p.D46E

c.138T>A

1 paper

NM_005456.4

p.P71_R72insFs

c.213_214insT

1 paper

NM_005456.4

p.R72P

c.215G>C

1 paper

NM_005456.4

p.A78A

c.234G>A

1 paper

NM_005456.4

p.G82R

c.244G>C

1 paper

NM_005456.4

p.G82A

c.245G>C

1 paper

NM_005456.4

p.R86R

c.258G>C

1 paper

NM_005456.4

p.E90G

c.269A>G

1 paper

NM_005456.4

p.T103P

c.307A>C

1 paper

NM_005456.4

p.P122L

c.365C>T