Varaico: Literature-Extracted Genetic Variants

Gene:DNAJC13
Variant:p.R2115L

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
4 papers
NM_015268.4
p.R2115L
c.6344G>T
Surrounding Variants
1 paper
NM_015268.4
p.I2113I
c.6339T>A
1 paper
NM_015268.4
p.E2120*
c.6358G>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.V2125L
c.6373G>C
1 paper
NM_015268.4
p.V2125L
c.6373G>T
1 paper
NM_015268.4
p.R2102fs
c.6304_6305fs
1 paper
NM_015268.4
p.K2101T
c.6302A>C
1 paper
NM_015268.4
p.R2071Q
c.6212G>A
1 paper
NM_015268.4
p.R2071W
c.6211C>T
9 papers
NM_015268.4
p.A2057S
c.6169G>T
1 paper
NM_015268.4
p.P2047T
c.6139C>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."