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

4 papers

NM_030962.4

p.G775S

c.2323G>A

Surrounding Variants

1 paper

NM_030962.4

p.G775V

c.2324G>T

1 paper

NM_030962.4

p.A773A

c.2319G>A

1 paper

NM_030962.4

p.N766T

c.2297A>C

1 paper

NM_030962.4

p.S764N

c.2291G>A

1 paper

NM_030962.4

p.D762N

c.2284G>A

1 paper

NM_030962.4

p.S788Splc

c.2363+1G>T

1 paper

NM_030962.4

p.L753insFs

c.2258dupT

1 paper

NM_030962.4

p.Q737delFs

c.2209_2210delTG

1 paper

NM_030962.4

p.V736A

c.2207T>C

1 paper

NM_030962.4

p.S730A

c.2188T>G

1 paper

NM_030962.4

p.S728delFs

c.2184delG

1 paper

NM_030962.4

p.A718V

c.2153C>T