Varaico: Literature-Extracted Genetic Variants

Gene:KRTAP10-2
Variant:p.S206T

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.S206T
c.616T>A
Surrounding Variants
1 paper
NM_198693.4
p.P190_K194del0
c.568_582del15
1 paper
NM_198693.4
p.C220Y
c.659G>A
1 paper
NM_198693.4
p.P190P
c.570T>C
3 papers
NM_198693.4
p.P190S
c.568C>T
1 paper
NM_198693.4
p.P177L
c.530C>T
1 paper
NM_198693.4
p.T174S
c.521C>G
1 paper
NM_198693.4
p.T174S
c.520A>T
2 papers
NM_198693.4
p.R241G
c.721C>G
1 paper
NM_198693.4
p.Q169H
c.507G>T
1 paper
NM_198693.4
p.Q169H
c.507G>C
1 paper
NM_198693.4
p.Q251K
c.751C>A
1 paper
NM_198693.4
p.T154N
c.461C>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."