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

2 papers

NM_001171876.2

p.K386Q

c.1156A>C

Surrounding Variants

1 paper

NM_001171876.2

p.K386N

c.1158A>T

1 paper

NM_001171876.2

p.K386N

c.1158A>C

1 paper

NM_001171876.2

p.V371I

c.1111G>A

1 paper

NM_001171876.2

p.R364C

c.1090C>T

1 paper

NM_001171876.2

p.E362K

c.1084G>A

1 paper

NM_001171876.2

p.L345F

c.1033C>T

1 paper

NM_001171876.2

p.L332*

c.995T>G

1 paper

NM_001171876.2

p.R395H

c.1184G>A

1 paper

NM_001171876.2

p.A406S

c.1216G>T

1 paper

NM_001171876.2

p.Q424*

c.1270C>T

1 paper

NM_001171876.2

p.E447A

c.1340A>C

1 paper

NM_001171876.2

p.I318K

c.953T>A