Varaico: Literature-Extracted Genetic Variants

Gene:KRTAP16-1
Variant:p.A487G

KRTAP16-1

19 papers

Pfam Domains

Keratin_B2_2aa 68–112UCSCKeratin, high sulfur B2 protein
Keratin_B2_2aa 128–172UCSCKeratin, high sulfur B2 protein
Keratin_B2_2aa 173–217UCSCKeratin, high sulfur B2 protein
Keratin_B2_2aa 193–247UCSCKeratin, high sulfur B2 protein
Keratin_B2_2aa 243–292UCSCKeratin, high sulfur B2 protein

Gene Aliases

HGNC Name

keratin associated protein 16-1

HGNC Alias Symbol

KAP16.1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001146182.2
p.A487G
c.1460C>G
Surrounding Variants
1 paper
NM_001146182.2
p.Q508E
c.1522C>G
1 paper
NM_001146182.2
p.R450H
c.1349G>A
1 paper
NM_001146182.2
p.M416T
c.1247T>C
1 paper
NM_001146182.2
p.T410P
c.1228A>C
1 paper
NM_001146182.2
p.L408F
c.1222C>T
1 paper
NM_001146182.2
p.P340R
c.1019C>G
1 paper
NM_001146182.2
p.R338C
c.1012C>T
1 paper
NM_001146182.2
p.V305V
c.915C>T
1 paper
NM_001146182.2
p.P292S
c.874C>T
2 papers
NM_001146182.2
p.S257T
c.770G>C
1 paper
NM_001146182.2
p.P231Q
c.692C>A
1 paper
NM_001146182.2
p.P216R
c.647C>G
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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."