Varaico: Literature-Extracted Genetic Variants

Gene:JAKMIP1
Variant:p.E603K

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
1 paper
NM_001099433.2
p.E603K
c.1807G>A
Surrounding Variants
1 paper
NM_001099433.2
p.E605Q
c.1813G>C
2 papers
NM_001099433.2
p.E605K
c.1813G>A
1 paper
NM_001099433.2
p.R606fs
c.1816_1817fs
1 paper
NM_001099433.2
p.E603_R604delFs
c.1808_1811del4
1 paper
NM_001099433.2
p.Q666*
c.1996C>T
1 paper
NM_001099433.2
p.A587T
c.1759G>A
1 paper
NM_001099433.2
p.D586H
c.1756G>C
1 paper
NM_001099433.2
p.E568V
c.1703A>T
1 paper
NM_001099433.2
p.D565E
c.1695C>G
1 paper
NM_001099433.2
p.D565E
c.1695C>A
1 paper
NM_001099433.2
p.D565G
c.1694A>G
1 paper
NM_001099433.2
p.D549Y
c.1645G>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."