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

7 papers

NM_002972.4

p.A530A

c.1590T>A

Surrounding Variants

1 paper

NM_002972.4

p.E534*

c.1600G>T

1 paper

NM_002972.4

p.M524R

c.1571T>G

1 paper

NM_002972.4

p.T537I

c.1610C>T

1 paper

NM_002972.4

p.M524L

c.1570A>T

1 paper

NM_002972.4

p.V539M

c.1615G>A

1 paper

NM_002972.4

p.P543T

c.1627C>A

1 paper

NM_002972.4

p.V517M

c.1549G>A

1 paper

NM_002972.4

p.M545I

c.1635G>T

1 paper

NM_002972.4

p.M545I

c.1635G>C

1 paper

NM_002972.4

p.M545I

c.1635G>A

2 papers

NM_002972.4

p.T546Splc

c.1636+1G>A

1 paper

NM_002972.4

p.P506S

c.1516C>T