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

6 papers

NM_030962.4

p.L1098V

c.3292C>G

Surrounding Variants

1 paper

NM_030962.4

p.S1095G

c.3283A>G

1 paper

NM_030962.4

p.E1102delFs

c.3305delT

1 paper

NM_030962.4

p.E1089K

c.3265G>A

1 paper

NM_030962.4

p.I1126T

c.3377T>C

1 paper

NM_030962.4

p.P1135L

c.3404C>T

1 paper

NM_030962.4

p.R1145T

c.3434G>C

1 paper

NM_030962.4

p.R1151Q

c.3452G>A

1 paper

NM_030962.4

p.V1086Splc

c.3256+1G>A

1 paper

NM_030962.4

p.R1037H

c.3110G>A

1 paper

NM_030962.4

p.R1037H

c.3110G>A

1 paper

NM_030962.4

p.K1032N

c.3096G>T

1 paper

NM_030962.4

p.K1032N

c.3096G>C