Varaico: Literature-Extracted Genetic Variants

Gene:HOXD13
Variant:p.Q248*

HOXD13

254 papers

RefSeq Summary

This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organi...

Pfam Domains

HoxA13_Naa 79–181UCSCHox protein A13 N terminal
Homeodomainaa 277–333UCSCHomeodomain

Gene Aliases

HGNC Name

homeobox D13

HGNC Previous Symbols

HOX4I; SPD

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
8 papers
NM_000523.4
p.Q248*
c.742C>T
Surrounding Variants
1 paper
NM_000523.4
p.Q248P
c.743A>C
1 paper
NM_000523.4
p.D247A
c.740A>C
1 paper
NM_000523.4
p.C244Y
c.731G>A
1 paper
NM_000523.4
p.S252A
c.754T>G
1 paper
NM_000523.4
p.H253_S257del5
c.757_770del15
1 paper
NM_000523.4
p.F254L
c.760T>C
1 paper
NM_000523.4
p.Q241H
c.723G>C
1 paper
NM_000523.4
p.Q241H
c.723G>T
1 paper
NM_000523.4
p.F254L
c.762T>A
1 paper
NM_000523.4
p.F254L
c.762T>G
1 paper
NM_000523.4
p.S258T
c.772T>A
1 paper
NM_000523.4
p.G237fs
c.709_710fs
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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."