Varaico: Literature-Extracted Genetic Variants

Gene:SPRR1B
Variant:p.Q17H

SPRR1B

23 papers

RefSeq Summary

The protein encoded by this gene is an envelope protein of keratinocytes. The encoded protein is crosslinked to membrane proteins by transglutaminase, forming an insoluble layer under the plasma membr...

Pfam Domains

Cornifinaa 17–74UCSCCornifin (SPRR) family

Gene Aliases

HGNC Name

small proline rich protein 1B

HGNC Previous Symbol

SPRR1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003125.3
p.Q17H
c.51G>C
Surrounding Variants
1 paper
NM_003125.3
p.Q17H
c.51G>T
2 papers
NM_003125.3
p.P14_K22del0
c.41_64del24
7 papers
NM_003125.3
p.T11I
c.32C>T
1 paper
NM_003125.3
p.T11fs
c.31_32fs
1 paper
NM_003125.3
p.T11insFs
c.31_32insT
1 paper
NM_003125.3
p.Q30E
c.88C>G
1 paper
NM_003125.3
p.E31_P32insT
c.91_95ins3
1 paper
NM_003125.3
p.H50P
c.149A>C
1 paper
NM_003125.3
p.Q58H
c.174G>C
1 paper
NM_003125.3
p.Q58H
c.174G>T
1 paper
NM_003125.3
p.K60M
c.179A>T
1 paper
NM_003125.3
p.V61fs
c.181_182fs
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