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.P2insFs

c.4dupC

Surrounding Variants

1 paper

NM_001377540.1

p.M1K

c.2T>A

1 paper

NM_001377540.1

p.R11C

c.31C>T

1 paper

NM_001377540.1

p.H21Y

c.61C>T

1 paper

NM_001377540.1

p.Y23S

c.68A>C

1 paper

NM_001377540.1

p.E26*

c.76G>T

1 paper

NM_001377540.1

p.E26A

c.77A>C

1 paper

NM_001377540.1

p.G31R

c.91G>C

1 paper

NM_001377540.1

p.H55fs

c.163_164fs

1 paper

NM_001377540.1

p.F60L

c.180T>A

1 paper

NM_001377540.1

p.D61V

c.182A>T

1 paper

NM_001377540.1

p.K63Q

c.187A>C

1 paper

NM_001377540.1

p.K66_F67Splc

c.198+5T>C