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

1–12 of 254 variants

7 papers

NM_030962.4

p.R1196*

c.3586C>T

6 papers

NM_030962.4

p.L1098V

c.3292C>G

5 papers

NM_030962.4

p.Q959*

c.2875C>T

4 papers

NM_030962.4

p.G775S

c.2323G>A

4 papers

NM_030962.4

p.S1252C

c.3754A>T

3 papers

NM_030962.4

p.E679K

c.2035G>A

3 papers

NM_030962.4

p.Q1216E

c.3646C>G

3 papers

NM_030962.4

p.K1672del1

c.5014_5016delTTT

2 papers

NM_030962.4

p.I45N

c.134T>A

2 papers

NM_030962.4

p.L139M

c.415T>A

2 papers

NM_030962.4

p.G207V

c.620G>T

2 papers

NM_030962.4

p.T220R

c.659C>G