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

3 papers

NM_030962.4

p.Q1216E

c.3646C>G

Surrounding Variants

1 paper

NM_030962.4

p.A1218Splc

c.3652+5G>A

1 paper

NM_030962.4

p.Q1212K

c.3634C>A

1 paper

NM_030962.4

p.F1209L

c.3627C>G

1 paper

NM_030962.4

p.F1209L

c.3627C>A

1 paper

NM_030962.4

p.F1209L

c.3625T>C

7 papers

NM_030962.4

p.R1196*

c.3586C>T

1 paper

NM_030962.4

p.P1181L

c.3542C>T

1 paper

NM_030962.4

p.R1173H

c.3518G>A

1 paper

NM_030962.4

p.V1159I

c.3475G>A

1 paper

NM_030962.4

p.A1237V

c.3710C>T

1 paper

NM_030962.4

p.S1243Y

c.3728C>A

1 paper

NM_030962.4

p.H1245Q

c.3735T>G