Varaico: Literature-Extracted Genetic Variants

MCF2

59 papers

RefSeq Summary

The oncogenic protein encoded by this gene is a guanine nucleotide exchange factor (GEF) that exerts control over some members of the Rho family of small GTPases. Several transcript variants encoding ...

Pfam Domains

CRAL_TRIO_2aa 2–89UCSCDivergent CRAL/TRIO domain

Spectrin_5aa 348–425UCSCGuanine nucleotide exchange factor DBS-like, spectrin-like

RhoGEFaa 499–673UCSCRhoGEF domain

SOS1_NGEF_PHaa 688–807UCSCSOS1/NGEF-like PH domain

Gene Aliases

HGNC Name

MCF.2 cell line derived transforming sequence

HGNC Alias Symbols

DBL; ARHGEF21

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001171876.2

p.S53Y

c.158C>A

Surrounding Variants

1 paper

NM_001171876.2

p.N49S

c.146A>G

1 paper

NM_001171876.2

p.E33ins2

c.97_98ins6

1 paper

NM_001171876.2

p.E32V

c.95A>T

1 paper

NM_001171876.2

p.R28_I30del0

c.83_88del6

1 paper

NM_001171876.2

p.N26D

c.76A>G

1 paper

NM_001171876.2

p.T20M

c.59C>T

1 paper

NM_005369.6

p.A2T

c.4G>A

1 paper

NM_001171876.2

p.I4I

c.12C>T

1 paper

NM_001171876.2

p.M1V

c.1A>G