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

1 paper

NM_001318852.2

p.F111I

c.331T>A

Surrounding Variants

1 paper

NM_001318852.2

p.Q117E

c.349C>G

1 paper

NM_001318852.2

p.D145N

c.433G>A

2 papers

NM_001318852.2

p.R153Q

c.458G>A

1 paper

NM_001318852.2

p.T169K

c.506C>A

1 paper

NM_001318852.2

p.E170_M171Splc

c.511-1G>C

1 paper

NM_001318852.2

p.I172K

c.515T>A

1 paper

NM_001318852.2

p.M184L

c.550A>T

1 paper

NM_001318852.2

p.T193_S196delFs

c.577_586del10

1 paper

NM_001318852.2

p.S201Splc

c.602+2T>A