Varaico: Literature-Extracted Genetic Variants

Gene:DNAJC13
Variant:p.N1809S

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.N1809S
c.5426A>G
Surrounding Variants
1 paper
NM_015268.4
p.E1812G
c.5435A>G
1 paper
NM_015268.4
p.L1816F
c.5448G>C
1 paper
NM_015268.4
p.L1816F
c.5448G>T
1 paper
NM_015268.4
p.S1817F
c.5450C>T
1 paper
NM_015268.4
p.I1799T
c.5396T>C
2 papers
NM_015268.4
p.R1830C
c.5488C>T
1 paper
NM_015268.4
p.L1837fs
c.5509_5510fs
1 paper
NM_015268.4
p.L1837delFs
c.5510_5511delTT
1 paper
NM_015268.4
p.N1865S
c.5594A>G
1 paper
NM_015268.4
p.M1882I
c.5646G>C
5 papers
NM_015268.4
p.E1740Q
c.5218G>C
1 paper
NM_015268.4
p.V1706I
c.5116G>A
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