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

3 papers

NM_015133.5

p.L444P

c.1331T>C

Surrounding Variants

1 paper

NM_015133.5

p.V448A

c.1343T>C

1 paper

NM_001318852.2

p.E455G

c.1364A>G

1 paper

NM_001318852.2

p.E455D

c.1365G>C

1 paper

NM_001318852.2

p.E455D

c.1365G>T

1 paper

NM_015133.5

p.Q455R

c.1364A>G

1 paper

NM_015133.5

p.E461G

c.1382A>G

1 paper

NM_001318852.2

p.E481K

c.1441G>A

1 paper

NM_001318852.2

p.E433K

c.1297G>A

1 paper

NM_001318852.2

p.L509F

c.1525C>T

2 papers

NM_015133.5

p.C509Y

c.1526G>A

NM_001318852.2

p.C510Y

c.1529G>A

1 paper

NM_001318852.2

p.S513_D514ins1

c.1539_1540insCGC

1 paper

NM_001318852.2

p.G416Splc

c.1246+46A>T