Varaico: Literature-Extracted Genetic Variants

SFMBT1

38 papers

RefSeq Summary

This gene shares high similarity with the Drosophila Scm (sex comb on midleg) gene. It encodes a protein which contains four malignant brain tumor repeat (mbt) domains and may be involved in antigen r...

Pfam Domains

MBTaa 54–124UCSCmbt repeat

MBTaa 166–236UCSCmbt repeat

MBTaa 279–352UCSCmbt repeat

MBTaa 388–457UCSCmbt repeat

SLEDaa 502–617UCSCSLED domain

SAM_1aa 794–857UCSCSAM domain (Sterile alpha motif)

Gene Aliases

HGNC Name

Scm like with four mbt domains 1

HGNC Alias Symbols

RU1; DKFZp434L243

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_016329.4

p.E118fs

c.352_353fs

Surrounding Variants

1 paper

NM_016329.4

p.T116delFs

c.348delG

1 paper

NM_016329.4

p.E118fs

c.352_353fs

1 paper

NM_016329.4

p.P106A

c.316C>G

1 paper

NM_016329.4

p.R91_C97del0

c.271_291del21

1 paper

NM_016329.4

p.V72F

c.214G>T

1 paper

NM_016329.4

p.L46delFs

c.138delC

1 paper

NM_016329.4

p.R124K

c.371G>A

1 paper

NM_016329.4

p.L138delFs

c.412_413delAG

1 paper

NM_016329.4

p.L138del1

c.412_413delCAG