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.N653I

c.1958A>T

Surrounding Variants

1 paper

NM_005456.4

p.K652fs

c.1954_1955fs

1 paper

NM_005456.4

p.K652_K655delFs

c.1954_1964del11

1 paper

NM_005456.4

p.N643delFs

c.1928delA

1 paper

NM_005456.4

p.C635F

c.1904G>T

1 paper

NM_005456.4

p.P664A

c.1990C>G

1 paper

NM_005456.4

p.A665T

c.1993G>A

1 paper

NM_005456.4

p.R668L

c.2003G>T

1 paper

NM_005456.4

p.V673F

c.2017G>T

1 paper

NM_005456.4

p.S679delFs

c.2035_2036delTC

1 paper

NM_005456.4

p.S679fs

c.2035_2036fs

3 papers

NM_005456.4

p.V622I

c.1864G>A

1 paper

NM_005456.4

p.E612K

c.1834G>A