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.S1236L

c.3707C>T

Surrounding Variants

1 paper

NM_002972.4

p.K1243insFs

c.3727dupA

1 paper

NM_002972.4

p.K1243del1

c.3727_3729delCTT

1 paper

NM_002972.4

p.P1253S

c.3757C>T

1 paper

NM_002972.4

p.P1253L

c.3758C>T

1 paper

NM_002972.4

p.Y1255Y

c.3765C>T

1 paper

NM_002972.4

p.G1230Splc

c.3688+1G>A

3 papers

NM_002972.4

p.V1276Splc

c.3826+1G>A

1 paper

NM_002972.4

p.G1211S

c.3631G>A

1 paper

NM_002972.4

p.V1183M

c.3547G>A

1 paper

NM_002972.4

p.S1174del1

c.3520_3522delACT

1 paper

NM_002972.4

p.S1164Splc

c.3492-1G>T

2 papers

NM_002972.4

p.S1164G

c.3490A>G