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

1–12 of 63 variants

7 papers

NM_001377540.1

p.V269I

c.805G>A

5 papers

NM_001377540.1

p.E710A

c.2129A>C

2 papers

NM_001377540.1

p.S200L

c.599C>T

2 papers

NM_007159.5

p.D454G

c.1361A>G

1 paper

NM_001377540.1

p.M1K

c.2T>A

1 paper

NM_001377540.1

p.P2insFs

c.4dupC

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