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

3 papers

NM_002972.4

p.R390G

c.1168C>G

Surrounding Variants

1 paper

NM_002972.4

p.H387H

c.1161C>T

2 papers

NM_002972.4

p.E394*

c.1180G>T

1 paper

NM_002972.4

p.R398C

c.1192C>T

1 paper

NM_002972.4

p.Q380*

c.1138C>T

1 paper

NM_002972.4

p.R373W

c.1117C>T

1 paper

NM_002972.4

p.R408H

c.1223G>A

1 paper

NM_002972.4

p.L410R

c.1229T>G

9 papers

NM_002972.4

p.M417V

c.1249A>G

9 papers

NM_002972.4

p.D443N

c.1327G>A

1 paper

NM_002972.4

p.E444K

c.1330G>A

1 paper

NM_002972.4

p.R462C

c.1384C>T

1 paper

NM_002972.4

p.R462H

c.1385G>A