Varaico: Literature-Extracted Genetic Variants

Gene:DNAJC13
Variant:p.L1051L

DNAJC13

256 papers

RefSeq Summary

This gene encodes a member of the Dnaj protein family whose members act as co-chaperones of a partner heat-shock protein by binding to the latter and stimulating ATP hydrolysis. The encoded protein as...

Pfam Domains

RME-8_Naa 12–839UCSCDNAJ protein RME-8 N-terminal
GYF_2aa 976–1026UCSCGYF domain 2
DnaJaa 1301–1360UCSCDnaJ domain

Gene Aliases

HGNC Name

DnaJ heat shock protein family (Hsp40) member C13

HGNC Alias Symbols

RME8; KIAA0678

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015268.4
p.L1051L
c.3153G>A
Surrounding Variants
1 paper
NM_015268.4
p.T1045I
c.3134C>T
1 paper
NM_015268.4
p.L1038L
c.3112C>T
1 paper
NM_015268.4
p.Q1035*
c.3103C>T
1 paper
NM_015268.4
p.A1011T
c.3031G>A
1 paper
NM_015268.4
p.L1003S
c.3008T>C
1 paper
NM_015268.4
p.Q995*
c.2983C>T
1 paper
NM_015268.4
p.S1079P
c.3235T>C
1 paper
NM_015268.4
p.T1082I
c.3245C>T
1 paper
NM_015268.4
p.R952Q
c.2855G>A
1 paper
NM_015268.4
p.T944S
c.2831C>G
1 paper
NM_015268.4
p.T944S
c.2830A>T
1 paper
NM_015268.4
p.D929G
c.2786A>G
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