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.C635_T636delFs

c.1903_1907del5

Surrounding Variants

1 paper

NM_001318852.2

p.A639T

c.1915G>A

1 paper

NM_001318852.2

p.Q675_L676Splc

c.2026-48G>C

2 papers

NM_015133.5

p.R696H

c.2087G>A

1 paper

NM_001318852.2

p.K707_L708Splc

c.2121+28T>A

1 paper

NM_001318852.2

p.D632N

c.1894G>A

1 paper

NM_001318852.2

p.D737N

c.2209G>A

1 paper

NM_001318852.2

p.D737D

c.2211T>C

1 paper

NM_001318852.2

p.E744A

c.2231A>C

1 paper

NM_015133.5

p.R591H

c.1772G>A

1 paper

NM_001318852.2

p.A752T

c.2254G>A

1 paper

NM_001318852.2

p.T754A

c.2260A>G

1 paper

NM_001318852.2

p.P588L

c.1763C>T