Varaico: Literature-Extracted Genetic Variants

Gene:JAKMIP1
Variant:p.R774R

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.R774R
c.2322C>T
Surrounding Variants
1 paper
NM_001099433.2
p.E763fs
c.2287_2288fs
1 paper
NM_001099433.2
p.E763*
c.2287G>T
1 paper
NM_001099433.2
p.E752K
c.2254G>A
1 paper
NM_001099433.2
p.G747S
c.2239G>A
1 paper
NM_001099433.2
p.E799K
c.2395G>A
1 paper
NM_001099433.2
p.E698K
c.2092G>A
1 paper
NM_001099433.2
p.Q690*
c.2068C>T
1 paper
NM_001099433.2
p.L812M
c.2434C>A
1 paper
NM_001099433.2
p.E685*
c.2053G>T
1 paper
NM_001099433.2
p.L821delFs
c.2462delA
1 paper
NM_001099433.2
p.S824fs
c.2470_2471fs
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