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_015133.5

p.R591H

c.1772G>A

Surrounding Variants

1 paper

NM_001318852.2

p.P588L

c.1763C>T

1 paper

NM_001040439.2

p.S577_P586del10

c.1729_1757del30

7 papers

NM_001318852.2

p.R579C

c.1735C>T

NM_015133.5

p.R578C

c.1732C>T

1 paper

NM_001318852.2

p.D632N

c.1894G>A

1 paper

NM_015133.5

p.R556Splc

c.1667+2T>C

1 paper

NM_015133.5

p.M543del1

c.1627_1629delATG

1 paper

NM_001318852.2

p.E535K

c.1603G>A

1 paper

NM_001318852.2

p.E528K

c.1582G>A

1 paper

NM_015133.5

p.R525Q

c.1574G>A

1 paper

NM_015133.5

p.R521H

c.1562G>A

2 papers

NM_001318852.2

p.C635_T636delFs

c.1903_1907del5

1 paper

NM_001318852.2

p.A639T

c.1915G>A