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

1–12 of 124 variants

5 papers

NM_001318852.2

p.Y94C

c.281A>G

5 papers

NM_015133.5

p.R578C

c.1732C>T

4 papers

NM_015133.5

p.R1146C

c.3436C>T

3 papers

NM_015133.5

p.L444P

c.1331T>C

2 papers

NM_001318852.2

p.G22fs

c.64_65fs

2 papers

NM_001318852.2

p.E27*

c.79G>T

2 papers

NM_001318852.2

p.Y37*

c.111C>A

2 papers

NM_001318852.2

p.Y37*

c.111C>G

2 papers

NM_001318852.2

p.R153Q

c.458G>A

2 papers

NM_001318852.2

p.V329I

c.985G>A

2 papers

NM_015133.5

p.G400R

c.1198G>A

2 papers

NM_015133.5

p.G400R

c.1198G>C