Varaico: Literature-Extracted Genetic Variants

SLMAP

76 papers

RefSeq Summary

This gene encodes a component of a conserved striatin-interacting phosphatase and kinase complex. Striatin family complexes participate in a variety of cellular processes including signaling, cell cyc...

Pfam Domains

FHAaa 28–106UCSCFHA domain

CC1_STRIPAKaa 162–230UCSCCoiled-coil domain 1 of STRIPAK-associated proteins

CCDC136_middleaa 486–798UCSCCCDC136 coiled-coil domain

Gene Aliases

HGNC Name

sarcolemma associated protein

HGNC Alias Symbols

SLAP; KIAA1601

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001377540.1

p.E313E

c.939G>A

Surrounding Variants

1 paper

NM_001377540.1

p.L303V

c.907T>G

1 paper

NM_001377540.1

p.H288Y

c.862C>T

1 paper

NM_001377540.1

p.E283_D284insFs

c.849_850insTG

1 paper

NM_001377540.1

p.E276_R277Splc

c.829-5C>T

1 paper

NM_001377540.1

p.E276_R277Splc

c.828+11C>A

7 papers

NM_001377540.1

p.V269I

c.805G>A

1 paper

NM_001377540.1

p.K265fs

c.793_794fs

1 paper

NM_001377540.1

p.E264delFs

c.790_791delGA

1 paper

NM_001377540.1

p.K255K

c.765A>G

1 paper

NM_001377540.1

p.Y250C

c.749A>G

1 paper

NM_001377540.1

p.T232I

c.695C>T

1 paper

NM_001377540.1

p.K229_N230Splc

c.688-4G>A