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

5 papers

NM_030962.4

p.Q959*

c.2875C>T

Surrounding Variants

1 paper

NM_030962.4

p.M958delFs

c.2872delT

1 paper

NM_030962.4

p.T951fs

c.2851_2852fs

1 paper

NM_030962.4

p.I950_T951insFs

c.2850_2851ins4

1 paper

NM_030962.4

p.I947T

c.2840T>C

1 paper

NM_030962.4

p.I947N

c.2840T>A

2 papers

NM_030962.4

p.P946S

c.2836C>T

1 paper

NM_030962.4

p.Q978P

c.2933A>C

1 paper

NM_030962.4

p.E938G

c.2813A>G

1 paper

NM_030962.4

p.V936A

c.2807T>C

1 paper

NM_030962.4

p.E987Q

c.2959G>C

1 paper

NM_030962.4

p.Q999*

c.2995C>T

2 papers

NM_030962.4

p.Q1019L

c.3056A>T