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

1 paper

NM_030962.4

p.G177A

c.530G>C

Surrounding Variants

1 paper

NM_030962.4

p.L176W

c.527T>G

1 paper

NM_030962.4

p.S175F

c.524C>T

1 paper

NM_030962.4

p.S175P

c.523T>C

1 paper

NM_030962.4

p.G179fs

c.535_536fs

1 paper

NM_030962.4

p.D180V

c.539A>T

1 paper

NM_030962.4

p.G196S

c.586G>A

1 paper

NM_030962.4

p.L206L

c.616T>C

1 paper

NM_030962.4

p.G207*

c.619G>T

1 paper

NM_030962.4

p.L159R

c.476T>G

1 paper

NM_030962.4

p.L159F

c.475C>T

1 paper

NM_030962.4

p.V145delFs

c.434delA

1 paper

NM_030962.4

p.L139L

c.415T>C