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.M220V

c.658A>G

Surrounding Variants

1 paper

NM_001377540.1

p.Q223*

c.667C>T

1 paper

NM_001377540.1

p.D211N

c.631G>A

1 paper

NM_001377540.1

p.Q205_A206Splc

c.615+6C>T

1 paper

NM_001377540.1

p.W204*

c.612G>A

1 paper

NM_001377540.1

p.D201N

c.601G>A

2 papers

NM_001377540.1

p.S200L

c.599C>T

1 paper

NM_001377540.1

p.L186I

c.556T>A

1 paper

NM_001377540.1

p.K229_N230Splc

c.688-4G>A

1 paper

NM_001377540.1

p.T232I

c.695C>T

1 paper

NM_001377540.1

p.Y250C

c.749A>G

1 paper

NM_001377540.1

p.K255K

c.765A>G

1 paper

NM_001377540.1

p.E264delFs

c.790_791delGA