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.G1035R

c.3103G>C

Surrounding Variants

1 paper

NM_002972.4

p.H1032P

c.3095A>C

1 paper

NM_002972.4

p.V1040delFs

c.3120delG

1 paper

NM_002972.4

p.I1020T

c.3059T>C

1 paper

NM_002972.4

p.R1015Q

c.3044G>A

1 paper

NM_002972.4

p.K1013R

c.3038A>G

1 paper

NM_002972.4

p.Q1010L

c.3029A>T

1 paper

NM_002972.4

p.A1004V

c.3011C>T

2 papers

NM_002972.4

p.R1053W

c.3157C>T

1 paper

NM_002972.4

p.K1060insFs

c.3179dupA

1 paper

NM_002972.4

p.K1061fs

c.3181_3182fs

5 papers

NM_001365819.1

p.G1065E

c.3194G>A

NM_002972.4

p.G1064E

c.3191G>A

2 papers

NM_002972.4

p.R1065Q

c.3194G>A