Varaico: Literature-Extracted Genetic Variants

MAPK8IP3

97 papers

RefSeq Summary

The protein encoded by this gene shares similarity with the product of Drosophila syd gene, required for the functional interaction of kinesin I with axonal cargo. Studies of the similar gene in mouse...

Pfam Domains

RH1aa 28–92UCSCRILP homology 1 domain

JIP_LZIIaa 414–484UCSCJNK-interacting protein leucine zipper II

WD40_2aa 944–1174UCSCWD40 repeated domain

Gene Aliases

HGNC Name

mitogen-activated protein kinase 8 interacting protein 3

HGNC Alias Symbols

KIAA1066; JSAP1; JIP3; syd

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001318852.2

p.E27*

c.79G>T

Surrounding Variants

1 paper

NM_001318852.2

p.G22A

c.65G>C

1 paper

NM_001318852.2

p.G22fs

c.64_65fs

2 papers

NM_001318852.2

p.G22fs

c.64_65fs

1 paper

NM_001318852.2

p.G22delFs

c.65delG

1 paper

NM_001318852.2

p.C20*

c.60C>A

2 papers

NM_001318852.2

p.Y37*

c.111C>A

2 papers

NM_001318852.2

p.Y37*

c.111C>G

1 paper

NM_001318852.2

p.Y15*

c.45C>A

1 paper

NM_001318852.2

p.Y15*

c.45C>G

1 paper

NM_001318852.2

p.Y15insFs

c.45dupC

1 paper

NM_001318852.2

p.F40_Y47del8

c.118_140del24

1 paper

NM_001318852.2

p.F40L

c.118T>C