Varaico: Literature-Extracted Genetic Variants

SBF1

193 papers

RefSeq Summary

This gene encodes a member of the protein-tyrosine phosphatase family. However, the encoded protein does not appear to be a catalytically active phosphatase because it lacks several amino acids in the...

Pfam Domains

uDENNaa 25–85UCSCuDENN domain

DENNaa 128–310UCSCDENN (AEX-3) domain

SBF2aa 542–764UCSCMyotubularin protein

GRAMaa 880–1017UCSCGRAM domain

Myotub-relatedaa 1107–1532UCSCMyotubularin-like phosphatase domain

PHaa 1762–1865UCSCPH domain

Gene Aliases

HGNC Name

SET binding factor 1

HGNC Alias Symbols

MTMR5; DENND7A

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_002972.4

p.G310E

c.929G>A

Surrounding Variants

1 paper

NM_002972.4

p.G309R

c.925G>A

1 paper

NM_002972.4

p.V318E

c.953T>A

1 paper

NM_002972.4

p.P322R

c.965C>G

2 papers

NM_002972.4

p.E325E

c.975G>A

1 paper

NM_002972.4

p.T331M

c.992C>T

1 paper

NM_002972.4

p.S333C

c.997A>T

6 papers

NM_002972.4

p.L335P

c.1004T>C

1 paper

NM_002972.4

p.M337_V338Splc

c.1011+2T>C

1 paper

NM_002972.4

p.A290T

c.868G>A

1 paper

NM_002972.4

p.G287R

c.859G>C

1 paper

NM_002972.4

p.G287R

c.859G>A

1 paper

NM_002972.4

p.A272S

c.814G>T