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

1 paper

NM_002972.4

p.V98M

c.292G>A

Surrounding Variants

1 paper

NM_002972.4

p.T102delFs

c.305_306delTG

1 paper

NM_002972.4

p.Q93_E94Splc

c.280-13T>A

1 paper

NM_002972.4

p.Q126*

c.376C>T

1 paper

NM_002972.4

p.L133_V134ins6

c.399_400ins18

1 paper

NM_002972.4

p.R138*

c.412C>T

1 paper

NM_002972.4

p.H141P

c.422A>C

1 paper

NM_002972.4

p.L70F

c.208C>T

1 paper

NM_002972.4

p.W54*

c.162G>A

1 paper

NM_002972.4

p.W54*

c.161G>A

1 paper

NM_002972.4

p.G150D

c.449G>A

1 paper

NM_002972.4

p.E165D

c.495G>T

1 paper

NM_002972.4

p.Q183*

c.547C>T