Varaico: Literature-Extracted Genetic Variants

Gene:JAKMIP1

JAKMIP1

82 papers

Pfam Domains

JAKMIP_CC3aa 415–610UCSCJAKMIP CC3 domain

Gene Aliases

HGNC Name

janus kinase and microtubule interacting protein 1

HGNC Alias Symbols

MARLIN1; JAMIP1; Gababrbp; FLJ31564

Papers
RefSeq ID
Protein change
DNA change
1–12 of 109 variants
6 papers
NM_001099433.2
p.R481*
c.1441C>T
3 papers
NM_001099433.2
p.Q20R
c.59A>G
2 papers
NM_001099433.2
p.R27W
c.79C>T
2 papers
NM_001099433.2
p.E147G
c.440A>G
2 papers
NM_001099433.2
p.R379W
c.1135C>T
2 papers
NM_001099433.2
p.R487C
c.1459C>T
2 papers
NM_001099433.2
p.E605K
c.1813G>A
1 paper
NM_001099433.2
p.M1T
c.2T>C
1 paper
NM_001099433.2
p.M1insFs
c.2dupT
1 paper
NM_001099433.2
p.S2L
c.5C>T
1 paper
NM_001099433.2
p.E13G
c.38A>G
1 paper
NM_001099433.2
p.Q20*
c.58C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."