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.R1544insFs

c.4631dupG

Surrounding Variants

1 paper

NM_002972.4

p.I1558M

c.4674T>G

1 paper

NM_002972.4

p.Q1518_V1519Splc

c.4554+39C>T

1 paper

NM_002972.4

p.G1568R

c.4702G>C

1 paper

NM_002972.4

p.G1568R

c.4702G>A

1 paper

NM_002972.4

p.V1516I

c.4546G>A

1 paper

NM_002972.4

p.W1580*

c.4739G>A

1 paper

NM_002972.4

p.W1580*

c.4740G>A

2 papers

NM_002972.4

p.T1506I

c.4517C>T

11 papers

NM_002972.4

p.T1590A

c.4768A>G

NM_001365819.1

p.T1565A

c.4693A>G

1 paper

NM_002972.4

p.T1497A

c.4489A>G

1 paper

NM_002972.4

p.F1490fs

c.4468_4469fs

1 paper

NM_002972.4

p.F1490delFs

c.4469delA