Varaico: Literature-Extracted Genetic Variants

Gene:MAP7D3
Variant:p.R693C

MAP7D3

57 papers

RefSeq Summary

The protein encoded by this gene belongs to the MAP7 (microtubule-associated protein 7) family. Alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefS...

Pfam Domains

MAP7aa 588–729UCSCMAP7 (E-MAP-115) family

Gene Aliases

HGNC Name

MAP7 domain containing 3

HGNC Alias Symbol

FLJ12649

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024597.4
p.R693C
c.2077C>T
Surrounding Variants
1 paper
NM_024597.4
p.M701L
c.2101A>T
1 paper
NM_024597.4
p.M701L
c.2101A>C
1 paper
NM_024597.4
p.R708Q
c.2123G>A
1 paper
NM_024597.4
p.T725fs
c.2173_2174fs
1 paper
NM_024597.4
p.T725_D726delFs
c.2174_2177del4
1 paper
NM_024597.4
p.Q628R
c.1883A>G
1 paper
NM_024597.4
p.R611H
c.1832G>A
1 paper
NM_024597.4
p.R607C
c.1819C>T
1 paper
NM_024597.4
p.M594T
c.1781T>C
1 paper
NM_024597.4
p.G592S
c.1774G>A
1 paper
NM_024597.4
p.E734G
c.2201A>G
1 paper
NM_024597.4
p.I740T
c.2219T>C
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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."