Varaico: Literature-Extracted Genetic Variants

Gene:DNAJC13
Variant:p.R1266Q

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
2 papers
NM_015268.4
p.R1266Q
c.3797G>A
Surrounding Variants
1 paper
NM_015268.4
p.P1271L
c.3812C>T
3 papers
NM_015268.4
p.I1272V
c.3814A>G
1 paper
NM_015268.4
p.I1255V
c.3763A>G
1 paper
NM_015268.4
p.E1248K
c.3742G>A
1 paper
NM_015268.4
p.Y1236C
c.3707A>G
1 paper
NM_015268.4
p.Y1236_C1237ins9
c.3706_3710ins27
1 paper
NM_015268.4
p.R1231fs
c.3691_3692fs
1 paper
NM_015268.4
p.T1230_R1231delFs
c.3690_3691delAA
1 paper
NM_015268.4
p.A1217A
c.3651C>T
1 paper
NM_015268.4
p.A1217T
c.3649G>A
1 paper
NM_015268.4
p.T1198T
c.3594T>C
4 papers
NM_015268.4
p.E1291G
c.3872A>G
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