Varaico: Literature-Extracted Genetic Variants

Gene:JAKMIP1
Variant:p.R487C

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
Selected Variant
2 papers
NM_001099433.2
p.R487C
c.1459C>T
Surrounding Variants
1 paper
NM_001099433.2
p.E483E
c.1449G>A
6 papers
NM_001099433.2
p.R481*
c.1441C>T
1 paper
NM_001099433.2
p.D477_A478Splc
c.1432-2A>G
1 paper
NM_001099433.2
p.R500R
c.1500C>T
1 paper
NM_001099433.2
p.L505L
c.1515C>A
1 paper
NM_001099433.2
p.T512M
c.1535C>T
1 paper
NM_001099433.2
p.T521P
c.1561A>C
1 paper
NM_001099433.2
p.Q526*
c.1576C>T
1 paper
NM_001099433.2
p.D528N
c.1582G>A
1 paper
NM_001099433.2
p.Q533E
c.1597C>G
1 paper
NM_001099433.2
p.D477N
c.1429G>A
1 paper
NM_001099433.2
p.E472K
c.1414G>A
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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."