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.L779V

c.2335C>G

Surrounding Variants

1 paper

NM_002972.4

p.S776S

c.2328C>T

1 paper

NM_002972.4

p.R782C

c.2344C>T

1 paper

NM_002972.4

p.R782H

c.2345G>A

1 paper

NM_002972.4

p.R763R

c.2289C>T

1 paper

NM_002972.4

p.R763L

c.2288G>T

4 papers

NM_001365819.1

p.R764H

c.2291G>A

NM_002972.4

p.R763H

c.2288G>A

1 paper

NM_002972.4

p.T752M

c.2255C>T

1 paper

NM_002972.4

p.E740A

c.2219A>C

2 papers

NM_002972.4

p.L737fs

c.2209_2210fs

2 papers

NM_002972.4

p.L737delFs

c.2209_2210delAG

1 paper

NM_002972.4

p.L737fs

c.2209_2210fs

1 paper

NM_002972.4

p.R732H

c.2195G>A