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

3 papers

NM_005456.4

p.V622I

c.1864G>A

Surrounding Variants

1 paper

NM_005456.4

p.E612K

c.1834G>A

1 paper

NM_005456.4

p.P605Q

c.1814C>A

1 paper

NM_005456.4

p.C635F

c.1904G>T

1 paper

NM_005456.4

p.N643delFs

c.1928delA

1 paper

NM_005456.4

p.K652_K655delFs

c.1954_1964del11

1 paper

NM_005456.4

p.K652fs

c.1954_1955fs

1 paper

NM_005456.4

p.N653I

c.1958A>T

1 paper

NM_005456.4

p.P578S

c.1732C>T

1 paper

NM_005456.4

p.V569L

c.1705G>C

1 paper

NM_005456.4

p.V569L

c.1705G>T

1 paper

NM_005456.4

p.Q566L

c.1697A>T

1 paper

NM_005456.4

p.P664A

c.1990C>G