Varaico: Literature-Extracted Genetic Variants

Gene:KRTAP10-2
Variant:p.T33A

KRTAP10-2

40 papers

RefSeq Summary

This gene encodes a member of the high sulfur-type keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair f...

Pfam Domains

Keratin_B2_2aa 74–118UCSCKeratin, high sulfur B2 protein
Keratin_B2_2aa 155–206UCSCKeratin, high sulfur B2 protein

Gene Aliases

HGNC Name

keratin associated protein 10-2

HGNC Previous Symbol

KRTAP18-2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_198693.4
p.T33A
c.97A>G
Surrounding Variants
1 paper
NM_198693.4
p.G32S
c.94G>A
1 paper
NM_198693.4
p.P34A
c.100C>G
1 paper
NM_198693.4
p.L29P
c.86T>C
2 papers
NM_198693.4
p.P39L
c.116C>T
1 paper
NM_198693.4
p.P39P
c.117A>G
1 paper
NM_198693.4
p.A40fs
c.118_119fs
2 papers
NM_198693.4
p.N15D
c.43A>G
1 paper
NM_198693.4
p.S54fs
c.160_161fs
1 paper
NM_198693.4
p.S54delFs
c.162delG
2 papers
NM_198693.4
p.A60A
c.180G>A
3 papers
NM_198693.4
p.P64S
c.190C>T
1 paper
NM_198693.4
p.P64_S65delFs
c.190_194del5
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."