Varaico: Literature-Extracted Genetic Variants

Gene:JAKMIP1
Variant:p.V438_E439delFs

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.V438_E439delFs
c.1313_1316del4
Surrounding Variants
1 paper
NM_001099433.2
p.V438fs
c.1312_1313fs
1 paper
NM_001099433.2
p.F442fs
c.1324_1325fs
1 paper
NM_001099433.2
p.F442delFs
c.1326delA
1 paper
NM_001099433.2
p.T467P
c.1399A>C
1 paper
NM_001099433.2
p.E472K
c.1414G>A
1 paper
NM_001099433.2
p.D477N
c.1429G>A
1 paper
NM_001099433.2
p.D477_A478Splc
c.1432-2A>G
6 papers
NM_001099433.2
p.R481*
c.1441C>T
1 paper
NM_001099433.2
p.E483E
c.1449G>A
2 papers
NM_001099433.2
p.R487C
c.1459C>T
1 paper
NM_001099433.2
p.R500R
c.1500C>T
1 paper
NM_001099433.2
p.L505L
c.1515C>A
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