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.A1269V

c.3806C>T

Surrounding Variants

1 paper

NM_001318852.2

p.G1277V

c.3830G>T

1 paper

NM_001318852.2

p.D1260A

c.3779A>C

1 paper

NM_015133.5

p.D1237N

c.3709G>A

1 paper

NM_001318852.2

p.E1337K

c.4009G>A

1 paper

NM_001318852.2

p.N1189S

c.3566A>G

1 paper

NM_001318852.2

p.A1154A

c.3462G>A

5 papers

NM_015133.5

p.R1146C

c.3436C>T

NM_001318852.2

p.R1147C

c.3439C>T

1 paper

NM_001318852.2

p.H1120Y

c.3358C>T

1 paper

NM_001040439.2

p.R1106_A1110del5

c.3316_3329del15

1 paper

NM_001318852.2

p.T1075A

c.3223A>G

1 paper

NM_001318852.2

p.K1074delFs

c.3222delG

1 paper

NM_001318852.2

p.R1059C

c.3175C>T