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.R1679R

c.5037C>T

Surrounding Variants

1 paper

NM_030962.4

p.R1679H

c.5036G>A

1 paper

NM_030962.4

p.E1674del1

c.5020_5022delTTC

3 papers

NM_030962.4

p.K1672del1

c.5014_5016delTTT

1 paper

NM_030962.4

p.K1652R

c.4955A>G

1 paper

NM_030962.4

p.S1644_E1645Splc

c.4932+118G>T

1 paper

NM_030962.4

p.P1626delFs

c.4877delG

1 paper

NM_030962.4

p.A1615S

c.4843G>T

2 papers

NM_030962.4

p.T1600I

c.4799C>T

1 paper

NM_030962.4

p.M1597I

c.4791G>T

1 paper

NM_030962.4

p.M1597I

c.4791G>C

1 paper

NM_030962.4

p.M1597I

c.4791G>A

1 paper

NM_030962.4

p.Y1594*

c.4782T>G