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

2 papers

NM_030962.4

p.T220R

c.659C>G

Surrounding Variants

1 paper

NM_030962.4

p.V218I

c.652G>A

1 paper

NM_030962.4

p.Q232*

c.694C>T

2 papers

NM_030962.4

p.G207V

c.620G>T

1 paper

NM_030962.4

p.G207fs

c.619_620fs

1 paper

NM_030962.4

p.Y254H

c.760T>C

1 paper

NM_030962.4

p.I255_I257del0

c.765_770del6

1 paper

NM_030962.4

p.L287_L288Splc

c.862-2A>G

1 paper

NM_030962.4

p.D289E

c.867T>G

1 paper

NM_030962.4

p.D289E

c.867T>A

1 paper

NM_030962.4

p.G297E

c.890G>A

1 paper

NM_030962.4

p.G298D

c.893G>A

1 paper

NM_030962.4

p.T299P

c.895A>C