Varaico: Literature-Extracted Genetic Variants

Gene:CLUAP1
Variant:p.D257N

CLUAP1

61 papers

RefSeq Summary

The protein encoded by this gene contains a single coiled-coil region. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012].

Pfam Domains

Cluap1aa 14–283UCSCClusterin-associated protein-1

Gene Aliases

HGNC Name

clusterin associated protein 1

HGNC Alias Symbols

FLJ13297; KIAA0643; FAP22; IFT38

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_015041.3
p.D257N
c.769G>A
Surrounding Variants
1 paper
NM_015041.3
p.E261E
c.783G>A
1 paper
NM_015041.3
p.E249E
c.747G>A
1 paper
NM_015041.3
p.E249G
c.746A>G
1 paper
NM_015041.3
p.Y245_T248del0
c.735_743del9
1 paper
NM_015041.3
p.E244_Y245delFs
c.732_733delGT
7 papers
NM_015041.3
p.L273F
c.817C>T
NM_024793.3
p.L107F
c.319C>T
1 paper
NM_015041.3
p.E280V
c.839A>T
1 paper
NM_015041.3
p.E285G
c.854A>G
1 paper
NM_015041.3
p.E285E
c.855G>A
1 paper
NM_015041.3
p.S236R
c.708T>A
2 papers
NM_015041.3
p.Q235*
c.703C>T
2 papers
NM_015041.3
p.R230*
c.688C>T
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