Varaico: Literature-Extracted Genetic Variants

Gene:KRTAP10-2
Variant:p.S78L

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
7 papers
NM_198693.4
p.S78L
c.233C>T
Surrounding Variants
1 paper
NM_198693.4
p.S78S
c.234G>A
3 papers
NM_198693.4
p.P87L
c.260C>T
1 paper
NM_198693.4
p.P64_S65delFs
c.190_194del5
3 papers
NM_198693.4
p.P64S
c.190C>T
1 paper
NM_198693.4
p.P94L
c.281C>T
2 papers
NM_198693.4
p.A60A
c.180G>A
1 paper
NM_198693.4
p.C100R
c.298T>C
1 paper
NM_198693.4
p.V101M
c.301G>A
1 paper
NM_198693.4
p.S54delFs
c.162delG
1 paper
NM_198693.4
p.S54fs
c.160_161fs
1 paper
NM_198693.4
p.P107T
c.319C>A
1 paper
NM_198693.4
p.P107_V108delins
c.319_324delinsACTGTC
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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."