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

5 papers

NM_001377540.1

p.E710A

c.2129A>C

Surrounding Variants

1 paper

NM_001377540.1

p.E634K

c.1900G>A

1 paper

NM_001377540.1

p.I587M

c.1761C>G

1 paper

NM_001377540.1

p.S714C

c.2141C>G

1 paper

NM_007159.5

p.E710A

c.2129A>C

1 paper

NM_001377540.1

p.E522K

c.1564G>A

1 paper

NM_001377540.1

p.E509*

c.1525G>T