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.G1302Splc

c.3904+5C>G

Surrounding Variants

1 paper

NM_002972.4

p.G1302Splc

c.3905-9C>T

3 papers

NM_002972.4

p.R1308W

c.3922C>T

1 paper

NM_002972.4

p.A1329T

c.3985G>A

1 paper

NM_002972.4

p.A1329A

c.3987G>A

1 paper

NM_002972.4

p.P1347T

c.4039C>A

1 paper

NM_002972.4

p.P1347L

c.4040C>T

1 paper

NM_002972.4

p.P1347Q

c.4040C>A

1 paper

NM_002972.4

p.K1362_G1363Splc

c.4086+2T>G

2 papers

NM_002972.4

p.K1362_G1363Splc

c.4086+11T>G

2 papers

NM_002972.4

p.K1362_G1363Splc

c.4086+13C>G

2 papers

NM_002972.4

p.K1362_G1363Splc

c.4086+20T>G

1 paper

NM_002972.4

p.V1397D

c.4190T>A