Varaico: Literature-Extracted Genetic Variants

Gene:DNAJC16
Variant:p.E78_I79Splc

DNAJC16

59 papers

Pfam Domains

DnaJaa 29–90UCSCDnaJ domain
Thioredoxinaa 144–244UCSCThioredoxin
Thioredoxin-like_DJC16_2ndaa 253–357UCSCDJC16, Thioredoxin-like domain 2
Thioredoxin-like_DJC16_3rdaa 364–493UCSCDJC16, Thioredoxin-like domain 3
DJC16_Caa 603–769UCSCDJC16, C-terminal domain

Gene Aliases

HGNC Name

DnaJ heat shock protein family (Hsp40) member C16

HGNC Alias Symbol

KIAA0962

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015291.4
p.E78_I79Splc
c.234+1G>A
Surrounding Variants
1 paper
NM_015291.4
p.E78G
c.233A>G
1 paper
NM_015291.4
p.E78_I79Splc
c.234+5C>T
1 paper
NM_015291.4
p.E67D
c.201A>T
1 paper
NM_015291.4
p.N61fs
c.181_182fs
1 paper
NM_015291.4
p.N61_K62delFs
c.183_186del4
1 paper
NM_015291.4
p.L80I
c.238C>A
1 paper
NM_015291.4
p.S81*
c.242C>A
1 paper
NM_015291.4
p.S81*
c.242C>G
2 papers
NM_015291.4
p.K85R
c.254A>G
2 papers
NM_015291.4
p.N88T
c.263A>C
1 paper
NM_015291.4
p.D90delFs
c.268delG
1 paper
NM_015291.4
p.Y92_G93del2
c.274_278del6
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