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.Y664_A665insA

c.1990_1994ins3

Surrounding Variants

1 paper

NM_001171876.2

p.Q688L

c.2063A>T

1 paper

NM_001171876.2

p.R657K

c.1970G>A

1 paper

NM_001171876.2

p.H645Y

c.1933C>T

1 paper

NM_001171876.2

p.D602N

c.1804G>A

1 paper

NM_001171876.2

p.L595_G596Splc

c.1785+252C>T

1 paper

NM_001171876.2

p.N577fs

c.1729_1730fs

1 paper

NM_001171876.2

p.N577delFs

c.1730delT

1 paper

NM_001171876.2

p.Q715_L716del2

c.2143_2147del6

1 paper

NM_001171876.2

p.L744F

c.2232A>T

1 paper

NM_001171876.2

p.L744F

c.2232A>C

1 paper

NM_001171876.2

p.S747delFs

c.2241delT

1 paper

NM_001171876.2

p.G775R

c.2323G>C