Varaico: Literature-Extracted Genetic Variants

SCNM1

32 papers

RefSeq Summary

SCNM1 is a zinc finger protein and putative splicing factor. In mice, Scnm1 modifies phenotypic expression of Scn8a (MIM 600702) mutations (Buchner et al., 2003 [PubMed 12920299]).[supplied by OMIM, O...

Pfam Domains

zf-SCNM1aa 44–70UCSCZinc-finger of sodium channel modifier 1

SCNM1_acidicaa 183–228UCSCAcidic C-terminal region of sodium channel modifier 1 SCNM1

Gene Aliases

HGNC Name

sodium channel modifier 1

HGNC Alias Symbol

MGC3180

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

5 papers

NM_024041.4

p.R187*

c.559A>T

Surrounding Variants

4 papers

NM_024041.4

p.A174V

c.521C>T

1 paper

NM_024041.4

p.A136T

c.406G>A

1 paper

NM_024041.4

p.R206P

c.617G>C

1 paper

NM_024041.4

p.R208P

c.623G>C

6 papers

NM_024041.4

p.R129C

c.385C>T

1 paper

NM_024041.4

p.A102fs

c.304_305fs

1 paper

NM_024041.4

p.T100delFs

c.300delC

1 paper

NM_024041.4

p.R97fs

c.289_290fs

1 paper

NM_024041.4

p.E94K

c.280G>A

1 paper

NM_024041.4

p.S71Splc

c.212-1G>A

1 paper

NM_024041.4

p.H68R

c.203A>G

1 paper

NM_024041.4

p.R63fs

c.187_188fs