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_015133.5

p.G400R

c.1198G>C

Surrounding Variants

2 papers

NM_015133.5

p.G400R

c.1198G>A

1 paper

NM_015133.5

p.S391F

c.1172C>T

1 paper

NM_001318852.2

p.E386A

c.1157A>C

1 paper

NM_001040439.2

p.G369_I370delFs

c.1106_1110del5

1 paper

NM_001318852.2

p.S365I

c.1094G>T

1 paper

NM_001318852.2

p.M354K

c.1061T>A

1 paper

NM_015133.5

p.V341I

c.1021G>A

2 papers

NM_001318852.2

p.V329I

c.985G>A

1 paper

NM_001318852.2

p.R327H

c.980G>A

1 paper

NM_015133.5

p.E318G

c.953A>G

1 paper

NM_001318852.2

p.K307R

c.920A>G

1 paper

NM_015133.5

p.E256E

c.768G>A