Varaico: Literature-Extracted Genetic Variants

Gene:DNAJC13
Variant:p.M2166I

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.M2166I
c.6498G>C
Surrounding Variants
1 paper
NM_015268.4
p.M2166I
c.6498G>A
1 paper
NM_015268.4
p.M2166I
c.6498G>T
2 papers
NM_015268.4
p.A2165V
c.6494C>T
1 paper
NM_015268.4
p.L2170V
c.6508T>G
9 papers
NM_015268.4
p.L2170W
c.6509T>G
3 papers
NM_015268.4
p.A2153T
c.6457G>A
1 paper
NM_015268.4
p.E2142G
c.6425A>G
1 paper
NM_015268.4
p.V2125L
c.6373G>C
1 paper
NM_015268.4
p.V2125L
c.6373G>T
1 paper
NM_015268.4
p.Q2121H
c.6363G>C
1 paper
NM_015268.4
p.Q2121H
c.6363G>T
1 paper
NM_015268.4
p.E2120*
c.6358G>T
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