Varaico: Literature-Extracted Genetic Variants

SBF2

209 papers

RefSeq Summary

This gene encodes a pseudophosphatase and member of the myotubularin-related protein family. This gene maps within the CMT4B2 candidate region of chromosome 11p15 and mutations in this gene have been ...

Pfam Domains

uDENNaa 25–85UCSCuDENN domain

DENNaa 116–298UCSCDENN (AEX-3) domain

SBF2aa 530–754UCSCMyotubularin protein

GRAMaa 870–1006UCSCGRAM domain

Myotub-relatedaa 1094–1553UCSCMyotubularin-like phosphatase domain

PHaa 1776–1879UCSCPH domain

Gene Aliases

HGNC Name

SET binding factor 2

HGNC Previous Symbol

CMT4B2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_030962.4

p.L47_F48Splc

c.141+1G>A

Surrounding Variants

1 paper

NM_030962.4

p.E46E

c.138G>A

2 papers

NM_030962.4

p.I45N

c.134T>A

1 paper

NM_030962.4

p.P42S

c.124C>T

1 paper

NM_030962.4

p.G23D

c.68G>A