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

1–12 of 260 variants

10 papers

NM_002972.4

p.T1590A

c.4768A>G

9 papers

NM_002972.4

p.M417V

c.1249A>G

9 papers

NM_002972.4

p.D443N

c.1327G>A

7 papers

NM_002972.4

p.A530A

c.1590T>A

6 papers

NM_002972.4

p.L335P

c.1004T>C

5 papers

NM_002972.4

p.G1064E

c.3191G>A

4 papers

NM_002972.4

p.R763H

c.2288G>A

3 papers

NM_002972.4

p.R390G

c.1168C>G

3 papers

NM_002972.4

p.V1276Splc

c.3826+1G>A

3 papers

NM_002972.4

p.R1308W

c.3922C>T

2 papers

NM_002972.4

p.G19R

c.55G>C

2 papers

NM_002972.4

p.G19R

c.55G>A