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.P1106fs

c.3316_3317fs

Surrounding Variants

1 paper

NM_002972.4

p.P1106delFs

c.3317delG

1 paper

NM_002972.4

p.T1103T

c.3309G>A

1 paper

NM_002972.4

p.M1116I

c.3348G>T

1 paper

NM_002972.4

p.M1116I

c.3348G>C

1 paper

NM_002972.4

p.M1116I

c.3348G>A

1 paper

NM_002972.4

p.D1129N

c.3385G>A

1 paper

NM_002972.4

p.R1132H

c.3395G>A

1 paper

NM_002972.4

p.L1135L

c.3403C>T

1 paper

NM_002972.4

p.R1144Q

c.3431G>A

1 paper

NM_002972.4

p.P1149delFs

c.3447delG

1 paper

NM_002972.4

p.F1150fs

c.3448_3449fs

1 paper

NM_002972.4

p.E1092K

c.3274G>A