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.Y1665*

c.4995C>G

Surrounding Variants

1 paper

NM_002972.4

p.Y1665*

c.4995C>A

1 paper

NM_002972.4

p.R1670W

c.5008C>T

1 paper

NM_002972.4

p.R1659H

c.4976G>A

1 paper

NM_002972.4

p.A1675T

c.5023G>A

1 paper

NM_002972.4

p.Q1655H

c.4965G>T

1 paper

NM_002972.4

p.Q1655H

c.4965G>C

1 paper

NM_002972.4

p.P1643T

c.4927C>A

1 paper

NM_002972.4

p.P1641delFs

c.4922delG

1 paper

NM_002972.4

p.T1625M

c.4874C>T

1 paper

NM_002972.4

p.R1607_Y1609delFs

c.4820_4827del8

1 paper

NM_002972.4

p.R1607fs

c.4819_4820fs

1 paper

NM_002972.4

p.E1604_V1605Splc

c.4813-1G>T